Incidental Mutation 'IGL02354:Madd'
ID 289600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Madd
Ensembl Gene ENSMUSG00000040687
Gene Name MAP-kinase activating death domain
Synonyms Rab3 GEP, 9630059K23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02354
Quality Score
Status
Chromosome 2
Chromosomal Location 90967705-91013404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90992543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1043 (V1043E)
Ref Sequence ENSEMBL: ENSMUSP00000107003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066420] [ENSMUST00000066473] [ENSMUST00000075269] [ENSMUST00000077941] [ENSMUST00000099723] [ENSMUST00000099725] [ENSMUST00000111376] [ENSMUST00000111369] [ENSMUST00000111370] [ENSMUST00000111371] [ENSMUST00000111372] [ENSMUST00000111381] [ENSMUST00000111373] [ENSMUST00000111375]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066420
AA Change: V1043E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000067210
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066473
AA Change: V1043E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000069350
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075269
AA Change: V1024E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000074746
Gene: ENSMUSG00000040687
AA Change: V1024E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 762 770 N/A INTRINSIC
low complexity region 797 820 N/A INTRINSIC
low complexity region 889 899 N/A INTRINSIC
low complexity region 1276 1290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077941
AA Change: V1063E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000077094
Gene: ENSMUSG00000040687
AA Change: V1063E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1354 1368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099723
AA Change: V1063E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097311
Gene: ENSMUSG00000040687
AA Change: V1063E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1189 1203 N/A INTRINSIC
low complexity region 1353 1367 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099725
AA Change: V1043E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097313
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111376
AA Change: V1043E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107007
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1151 1162 N/A INTRINSIC
low complexity region 1312 1326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111369
AA Change: V1000E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107000
Gene: ENSMUSG00000040687
AA Change: V1000E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
low complexity region 1108 1122 N/A INTRINSIC
low complexity region 1251 1265 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130395
Predicted Effect probably benign
Transcript: ENSMUST00000111370
AA Change: V1043E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107001
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1334 1348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111371
AA Change: V1044E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107002
Gene: ENSMUSG00000040687
AA Change: V1044E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 719 N/A INTRINSIC
low complexity region 762 770 N/A INTRINSIC
low complexity region 797 820 N/A INTRINSIC
low complexity region 909 919 N/A INTRINSIC
low complexity region 1296 1310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125227
Predicted Effect probably benign
Transcript: ENSMUST00000111372
AA Change: V1043E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107003
Gene: ENSMUSG00000040687
AA Change: V1043E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 908 918 N/A INTRINSIC
low complexity region 1295 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111381
AA Change: V1063E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107012
Gene: ENSMUSG00000040687
AA Change: V1063E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 718 N/A INTRINSIC
low complexity region 781 789 N/A INTRINSIC
low complexity region 816 839 N/A INTRINSIC
low complexity region 928 938 N/A INTRINSIC
low complexity region 1315 1329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111373
AA Change: V1000E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107004
Gene: ENSMUSG00000040687
AA Change: V1000E

DomainStartEndE-ValueType
uDENN 7 97 2.9e-29 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 8.7e-71 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 2.8e-16 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 865 875 N/A INTRINSIC
low complexity region 1108 1122 N/A INTRINSIC
low complexity region 1251 1265 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125321
Predicted Effect probably benign
Transcript: ENSMUST00000111375
AA Change: V1020E

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107006
Gene: ENSMUSG00000040687
AA Change: V1020E

DomainStartEndE-ValueType
uDENN 7 97 7.11e-26 SMART
low complexity region 124 139 N/A INTRINSIC
DENN 171 401 2.19e-67 SMART
low complexity region 412 428 N/A INTRINSIC
dDENN 484 554 6.71e-13 SMART
low complexity region 619 639 N/A INTRINSIC
low complexity region 699 721 N/A INTRINSIC
low complexity region 773 796 N/A INTRINSIC
low complexity region 885 895 N/A INTRINSIC
low complexity region 1272 1286 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150461
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,322,498 (GRCm39) L164F possibly damaging Het
Bfsp1 T C 2: 143,673,907 (GRCm39) E261G probably damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cacng3 T G 7: 122,271,169 (GRCm39) M58R possibly damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,534 (GRCm39) S376P probably damaging Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or4c1 T A 2: 89,133,526 (GRCm39) M137L probably benign Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Sall1 G T 8: 89,759,677 (GRCm39) S142R probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Snapc4 A G 2: 26,257,319 (GRCm39) probably benign Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tbc1d10a T C 11: 4,165,047 (GRCm39) V500A probably benign Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) probably null Het
Other mutations in Madd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Madd APN 2 91,006,111 (GRCm39) unclassified probably benign
IGL00781:Madd APN 2 90,977,273 (GRCm39) missense probably benign 0.00
IGL00844:Madd APN 2 90,998,213 (GRCm39) missense probably damaging 1.00
IGL00942:Madd APN 2 91,000,923 (GRCm39) missense probably damaging 1.00
IGL01100:Madd APN 2 90,988,385 (GRCm39) missense probably damaging 1.00
IGL01116:Madd APN 2 90,984,888 (GRCm39) splice site probably benign
IGL01694:Madd APN 2 90,988,320 (GRCm39) splice site probably benign
IGL01982:Madd APN 2 91,006,052 (GRCm39) missense probably damaging 1.00
IGL02346:Madd APN 2 90,992,836 (GRCm39) missense probably damaging 0.97
IGL02361:Madd APN 2 90,992,543 (GRCm39) missense probably benign 0.17
IGL02481:Madd APN 2 91,008,381 (GRCm39) missense probably damaging 1.00
IGL02483:Madd APN 2 91,008,381 (GRCm39) missense probably damaging 1.00
IGL02948:Madd APN 2 90,973,172 (GRCm39) missense probably benign
IGL03338:Madd APN 2 90,992,507 (GRCm39) missense possibly damaging 0.48
BB005:Madd UTSW 2 91,007,233 (GRCm39) missense probably damaging 1.00
BB015:Madd UTSW 2 91,007,233 (GRCm39) missense probably damaging 1.00
R0026:Madd UTSW 2 91,006,053 (GRCm39) missense possibly damaging 0.88
R0026:Madd UTSW 2 91,006,053 (GRCm39) missense possibly damaging 0.88
R0027:Madd UTSW 2 90,982,894 (GRCm39) missense probably damaging 0.97
R0085:Madd UTSW 2 90,993,083 (GRCm39) missense probably benign 0.00
R0577:Madd UTSW 2 90,968,740 (GRCm39) missense possibly damaging 0.88
R0587:Madd UTSW 2 90,977,230 (GRCm39) missense probably damaging 1.00
R1112:Madd UTSW 2 90,973,944 (GRCm39) missense probably damaging 1.00
R1722:Madd UTSW 2 90,997,982 (GRCm39) missense probably benign
R1750:Madd UTSW 2 90,998,236 (GRCm39) missense probably damaging 0.98
R2061:Madd UTSW 2 90,991,831 (GRCm39) intron probably benign
R2112:Madd UTSW 2 91,007,321 (GRCm39) missense possibly damaging 0.89
R2114:Madd UTSW 2 90,994,367 (GRCm39) missense probably damaging 1.00
R2140:Madd UTSW 2 90,982,854 (GRCm39) missense possibly damaging 0.80
R2276:Madd UTSW 2 90,974,028 (GRCm39) missense possibly damaging 0.67
R2277:Madd UTSW 2 90,974,028 (GRCm39) missense possibly damaging 0.67
R2279:Madd UTSW 2 90,974,028 (GRCm39) missense possibly damaging 0.67
R2424:Madd UTSW 2 90,996,967 (GRCm39) missense probably damaging 1.00
R2904:Madd UTSW 2 91,006,017 (GRCm39) missense probably damaging 1.00
R3122:Madd UTSW 2 91,006,554 (GRCm39) missense probably damaging 1.00
R3836:Madd UTSW 2 90,984,988 (GRCm39) critical splice donor site probably null
R3979:Madd UTSW 2 91,007,173 (GRCm39) missense possibly damaging 0.81
R4151:Madd UTSW 2 90,973,428 (GRCm39) missense probably benign 0.11
R4233:Madd UTSW 2 91,008,581 (GRCm39) missense probably benign 0.26
R4236:Madd UTSW 2 90,997,373 (GRCm39) missense probably benign 0.00
R4299:Madd UTSW 2 91,000,148 (GRCm39) missense probably damaging 1.00
R4334:Madd UTSW 2 90,970,917 (GRCm39) missense probably benign 0.08
R4413:Madd UTSW 2 90,997,932 (GRCm39) missense probably damaging 1.00
R4595:Madd UTSW 2 90,998,009 (GRCm39) missense possibly damaging 0.80
R4694:Madd UTSW 2 90,990,673 (GRCm39) missense probably damaging 0.99
R5410:Madd UTSW 2 90,984,859 (GRCm39) missense probably damaging 1.00
R5490:Madd UTSW 2 91,000,980 (GRCm39) missense possibly damaging 0.80
R5560:Madd UTSW 2 90,993,890 (GRCm39) missense probably damaging 1.00
R5661:Madd UTSW 2 90,984,778 (GRCm39) critical splice donor site probably null
R5710:Madd UTSW 2 90,984,821 (GRCm39) missense probably damaging 1.00
R5730:Madd UTSW 2 90,988,454 (GRCm39) missense probably damaging 1.00
R5759:Madd UTSW 2 90,992,420 (GRCm39) missense possibly damaging 0.94
R5768:Madd UTSW 2 90,998,174 (GRCm39) missense probably damaging 1.00
R5822:Madd UTSW 2 90,982,878 (GRCm39) missense probably damaging 1.00
R6125:Madd UTSW 2 90,982,797 (GRCm39) critical splice donor site probably null
R6151:Madd UTSW 2 90,995,802 (GRCm39) nonsense probably null
R6229:Madd UTSW 2 90,974,015 (GRCm39) missense probably damaging 0.96
R6230:Madd UTSW 2 90,973,866 (GRCm39) critical splice donor site probably null
R6245:Madd UTSW 2 91,008,449 (GRCm39) missense probably benign 0.27
R6323:Madd UTSW 2 90,991,783 (GRCm39) splice site probably null
R6456:Madd UTSW 2 91,008,536 (GRCm39) missense probably benign
R6473:Madd UTSW 2 90,997,404 (GRCm39) missense probably benign
R6878:Madd UTSW 2 91,000,202 (GRCm39) missense probably damaging 1.00
R7060:Madd UTSW 2 91,007,452 (GRCm39) missense probably damaging 1.00
R7065:Madd UTSW 2 90,985,402 (GRCm39) missense probably benign 0.26
R7073:Madd UTSW 2 90,992,854 (GRCm39) missense probably damaging 1.00
R7124:Madd UTSW 2 90,992,393 (GRCm39) missense possibly damaging 0.94
R7251:Madd UTSW 2 90,992,521 (GRCm39) missense probably benign 0.01
R7510:Madd UTSW 2 91,008,321 (GRCm39) missense possibly damaging 0.80
R7605:Madd UTSW 2 91,000,055 (GRCm39) missense possibly damaging 0.90
R7911:Madd UTSW 2 90,997,853 (GRCm39) missense probably null 0.01
R7928:Madd UTSW 2 91,007,233 (GRCm39) missense probably damaging 1.00
R7952:Madd UTSW 2 90,992,886 (GRCm39) missense probably damaging 1.00
R8039:Madd UTSW 2 90,997,406 (GRCm39) missense probably benign 0.17
R8047:Madd UTSW 2 91,009,546 (GRCm39) missense probably damaging 1.00
R8048:Madd UTSW 2 90,984,793 (GRCm39) missense probably damaging 0.99
R8070:Madd UTSW 2 90,988,359 (GRCm39) nonsense probably null
R8090:Madd UTSW 2 90,985,968 (GRCm39) missense probably benign 0.01
R8335:Madd UTSW 2 91,000,584 (GRCm39) missense probably damaging 1.00
R8459:Madd UTSW 2 90,992,871 (GRCm39) missense probably benign
R8678:Madd UTSW 2 91,006,610 (GRCm39) missense probably damaging 1.00
R8920:Madd UTSW 2 91,007,168 (GRCm39) missense probably benign 0.04
R9003:Madd UTSW 2 90,988,359 (GRCm39) nonsense probably null
R9102:Madd UTSW 2 90,988,404 (GRCm39) missense probably benign 0.00
R9154:Madd UTSW 2 90,998,162 (GRCm39) missense probably damaging 1.00
R9242:Madd UTSW 2 90,973,949 (GRCm39) missense probably damaging 0.99
R9277:Madd UTSW 2 91,006,055 (GRCm39) missense probably damaging 1.00
R9394:Madd UTSW 2 91,000,199 (GRCm39) missense probably benign
R9490:Madd UTSW 2 91,008,501 (GRCm39) missense probably benign
R9499:Madd UTSW 2 91,000,434 (GRCm39) missense probably damaging 1.00
R9551:Madd UTSW 2 91,000,434 (GRCm39) missense probably damaging 1.00
R9553:Madd UTSW 2 91,008,800 (GRCm39) missense probably damaging 1.00
R9599:Madd UTSW 2 91,006,026 (GRCm39) missense probably damaging 1.00
R9695:Madd UTSW 2 90,992,929 (GRCm39) missense probably benign 0.17
R9729:Madd UTSW 2 91,000,544 (GRCm39) missense possibly damaging 0.60
X0067:Madd UTSW 2 90,982,818 (GRCm39) missense probably damaging 1.00
Z1176:Madd UTSW 2 90,989,617 (GRCm39) missense probably damaging 0.96
Z1177:Madd UTSW 2 90,973,176 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16