Incidental Mutation 'R8810:Mamdc4'
ID 672318
Institutional Source Beutler Lab
Gene Symbol Mamdc4
Ensembl Gene ENSMUSG00000026941
Gene Name MAM domain containing 4
Synonyms LOC381352
MMRRC Submission 068725-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R8810 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25453124-25461328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25458501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 336 (E336G)
Ref Sequence ENSEMBL: ENSMUSP00000092735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000095117] [ENSMUST00000114223]
AlphaFold A2AJA7
Predicted Effect probably benign
Transcript: ENSMUST00000039156
SMART Domains Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

DomainStartEndE-ValueType
Pfam:Ocnus 5 116 1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095117
AA Change: E336G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: E336G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LDLa 32 58 7.33e-1 SMART
MAM 66 227 3.56e-52 SMART
LDLa 233 272 3.5e-9 SMART
MAM 254 430 3.87e-53 SMART
LDLa 461 497 2.63e-4 SMART
MAM 493 653 5.33e-5 SMART
MAM 660 819 3.68e-68 SMART
MAM 820 979 1.07e-28 SMART
MAM 980 1148 2.07e-62 SMART
transmembrane domain 1165 1187 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114223
AA Change: E332G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: E332G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 28 54 7.33e-1 SMART
MAM 62 223 3.56e-52 SMART
LDLa 229 268 3.5e-9 SMART
MAM 250 426 3.87e-53 SMART
LDLa 457 493 2.63e-4 SMART
MAM 489 649 5.33e-5 SMART
MAM 656 815 3.68e-68 SMART
MAM 816 975 1.07e-28 SMART
MAM 976 1144 2.07e-62 SMART
transmembrane domain 1161 1183 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: E312G

DomainStartEndE-ValueType
LDLa 9 35 7.33e-1 SMART
MAM 43 204 3.56e-52 SMART
LDLa 210 249 3.5e-9 SMART
MAM 231 407 3.87e-53 SMART
LDLa 438 474 2.63e-4 SMART
MAM 558 717 2.27e-68 SMART
MAM 718 877 1.07e-28 SMART
MAM 878 1046 2.07e-62 SMART
transmembrane domain 1063 1085 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency 99% (82/83)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,452 (GRCm39) S1408P probably damaging Het
Acap3 T C 4: 155,990,169 (GRCm39) V783A probably damaging Het
Akap8 T C 17: 32,525,504 (GRCm39) N525S probably damaging Het
Aqp1 C T 6: 55,313,606 (GRCm39) T44M probably damaging Het
Arap1 T C 7: 101,053,585 (GRCm39) Y1305H probably damaging Het
Atg2a T G 19: 6,300,651 (GRCm39) S743A probably benign Het
AW551984 G T 9: 39,511,307 (GRCm39) L133I probably damaging Het
Bahcc1 C A 11: 120,164,587 (GRCm39) P802T possibly damaging Het
Brd8 C A 18: 34,743,002 (GRCm39) V288L probably benign Het
Carmil2 T C 8: 106,412,947 (GRCm39) probably null Het
Catspere2 G A 1: 177,905,048 (GRCm39) E153K possibly damaging Het
Ccdc162 C T 10: 41,542,737 (GRCm39) R379Q probably benign Het
Cd200l1 T C 16: 45,264,199 (GRCm39) T120A probably benign Het
Cdh16 A G 8: 105,341,136 (GRCm39) L116P probably damaging Het
Cenpj A T 14: 56,796,076 (GRCm39) H260Q possibly damaging Het
Cenpq A G 17: 41,244,027 (GRCm39) V17A possibly damaging Het
Cep350 T C 1: 155,803,862 (GRCm39) K1074E probably damaging Het
Chil4 C A 3: 106,109,121 (GRCm39) C394F probably damaging Het
Chst9 T C 18: 15,850,983 (GRCm39) I28V probably benign Het
Clasp2 C A 9: 113,728,649 (GRCm39) N873K probably damaging Het
Clec4b2 T A 6: 123,158,269 (GRCm39) M45K probably benign Het
Cmya5 T A 13: 93,200,048 (GRCm39) T3427S possibly damaging Het
Cnih4 A G 1: 180,989,777 (GRCm39) Y130C probably damaging Het
Cpne9 T A 6: 113,281,506 (GRCm39) M529K probably damaging Het
Crppa A T 12: 36,440,481 (GRCm39) N130Y probably damaging Het
Ctsr T A 13: 61,309,639 (GRCm39) Y190F probably damaging Het
Cyp2j13 G A 4: 95,945,153 (GRCm39) H351Y probably benign Het
Dixdc1 T A 9: 50,613,265 (GRCm39) Q230L probably damaging Het
Dpep1 A T 8: 123,926,764 (GRCm39) I226F probably benign Het
Efcab3 A T 11: 104,805,721 (GRCm39) N3076I unknown Het
Ehd2 A G 7: 15,691,603 (GRCm39) V243A probably benign Het
Etnk2 T A 1: 133,306,232 (GRCm39) Y353N probably benign Het
Fgg G T 3: 82,920,322 (GRCm39) G367V probably damaging Het
Gm9772 T C 17: 22,225,310 (GRCm39) *61Q probably null Het
Grk5 T G 19: 61,078,432 (GRCm39) D496E possibly damaging Het
Hc T C 2: 34,909,535 (GRCm39) N915S probably benign Het
Iah1 G T 12: 21,367,388 (GRCm39) Q31H probably benign Het
Insr T C 8: 3,219,714 (GRCm39) D936G probably benign Het
Ints6 A C 14: 62,939,902 (GRCm39) V596G probably benign Het
Kcnj16 A G 11: 110,915,677 (GRCm39) D113G possibly damaging Het
Kdm4b A T 17: 56,706,771 (GRCm39) I928F probably damaging Het
Lrrc41 C T 4: 115,932,488 (GRCm39) probably benign Het
Lrrc8e G A 8: 4,285,070 (GRCm39) V432I probably benign Het
Maml2 C A 9: 13,532,918 (GRCm39) Q711K Het
Map3k14 T C 11: 103,118,498 (GRCm39) T563A possibly damaging Het
Mcu T A 10: 59,303,535 (GRCm39) K101* probably null Het
Mettl22 T A 16: 8,303,792 (GRCm39) V286E probably damaging Het
Mon2 A T 10: 122,845,516 (GRCm39) N1396K possibly damaging Het
Mprip T C 11: 59,587,851 (GRCm39) probably benign Het
Mrpl51 C T 6: 125,170,344 (GRCm39) L117F probably damaging Het
Myo1d C A 11: 80,565,758 (GRCm39) V356F probably damaging Het
Myo1d T A 11: 80,567,758 (GRCm39) I241F probably benign Het
Naalad2 A T 9: 18,297,230 (GRCm39) probably benign Het
Nacad T C 11: 6,552,853 (GRCm39) T113A probably benign Het
Nrap T A 19: 56,352,843 (GRCm39) probably benign Het
Or10b1 G A 10: 78,356,284 (GRCm39) V281M possibly damaging Het
Or2z2 T C 11: 58,345,936 (GRCm39) T280A possibly damaging Het
Or56b2 T A 7: 104,337,387 (GRCm39) I55N probably damaging Het
Or5ae1 T A 7: 84,565,626 (GRCm39) I213N possibly damaging Het
Or5w1 T C 2: 87,486,591 (GRCm39) I225V possibly damaging Het
Or6z3 T C 7: 6,463,763 (GRCm39) L85P probably damaging Het
Osbpl3 T C 6: 50,328,852 (GRCm39) D117G probably damaging Het
Parp9 C T 16: 35,773,981 (GRCm39) R318* probably null Het
Pcdhb18 A G 18: 37,623,374 (GRCm39) I235V probably benign Het
Pex16 T G 2: 92,209,366 (GRCm39) probably benign Het
Piezo2 T A 18: 63,248,034 (GRCm39) M489L probably benign Het
Pmepa1 C A 2: 173,069,628 (GRCm39) G271V probably damaging Het
Safb A G 17: 56,910,579 (GRCm39) E659G unknown Het
Scn9a T C 2: 66,332,010 (GRCm39) T1289A probably damaging Het
Secisbp2l T C 2: 125,617,596 (GRCm39) D27G possibly damaging Het
Serpina1f A G 12: 103,660,240 (GRCm39) V14A probably benign Het
Serpinb9b C A 13: 33,213,452 (GRCm39) T3N possibly damaging Het
Sfxn5 C T 6: 85,206,182 (GRCm39) M315I probably benign Het
Slc9b2 A G 3: 135,035,530 (GRCm39) D333G probably benign Het
Sostdc1 A G 12: 36,367,229 (GRCm39) N135S possibly damaging Het
Spg11 T G 2: 121,901,425 (GRCm39) D1505A probably damaging Het
Spmip8 A T 8: 96,047,883 (GRCm39) probably benign Het
Taar7a T C 10: 23,869,279 (GRCm39) N34S probably benign Het
Tcerg1l C A 7: 137,811,526 (GRCm39) R556L possibly damaging Het
Tcp11l1 T C 2: 104,518,763 (GRCm39) K311R probably benign Het
Trbv16 T G 6: 41,128,972 (GRCm39) F52C probably damaging Het
Ttn T A 2: 76,726,016 (GRCm39) R6073S unknown Het
Uba1y T C Y: 828,818 (GRCm39) I542T possibly damaging Het
Vmn1r214 T C 13: 23,219,082 (GRCm39) I192T probably benign Het
Vmn2r67 C T 7: 84,786,346 (GRCm39) C553Y probably damaging Het
Zdhhc17 G T 10: 110,784,121 (GRCm39) H452N possibly damaging Het
Other mutations in Mamdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Mamdc4 APN 2 25,453,588 (GRCm39) missense possibly damaging 0.53
IGL01994:Mamdc4 APN 2 25,458,546 (GRCm39) missense possibly damaging 0.64
IGL02072:Mamdc4 APN 2 25,458,351 (GRCm39) missense probably damaging 1.00
IGL02193:Mamdc4 APN 2 25,454,458 (GRCm39) missense probably benign 0.02
IGL02673:Mamdc4 APN 2 25,460,066 (GRCm39) missense probably benign
IGL03048:Mamdc4 UTSW 2 25,459,084 (GRCm39) missense possibly damaging 0.67
R0135:Mamdc4 UTSW 2 25,456,932 (GRCm39) missense possibly damaging 0.71
R0481:Mamdc4 UTSW 2 25,461,228 (GRCm39) start codon destroyed probably null 0.08
R0490:Mamdc4 UTSW 2 25,453,593 (GRCm39) missense probably benign 0.01
R0609:Mamdc4 UTSW 2 25,454,205 (GRCm39) missense probably benign 0.30
R0729:Mamdc4 UTSW 2 25,460,048 (GRCm39) missense probably damaging 0.98
R1365:Mamdc4 UTSW 2 25,456,036 (GRCm39) missense probably damaging 1.00
R1533:Mamdc4 UTSW 2 25,459,759 (GRCm39) missense possibly damaging 0.71
R1671:Mamdc4 UTSW 2 25,458,235 (GRCm39) nonsense probably null
R1789:Mamdc4 UTSW 2 25,457,634 (GRCm39) missense possibly damaging 0.59
R2002:Mamdc4 UTSW 2 25,457,244 (GRCm39) missense probably damaging 1.00
R2013:Mamdc4 UTSW 2 25,453,584 (GRCm39) missense probably damaging 0.98
R2014:Mamdc4 UTSW 2 25,453,584 (GRCm39) missense probably damaging 0.98
R2056:Mamdc4 UTSW 2 25,454,180 (GRCm39) missense probably benign 0.18
R2109:Mamdc4 UTSW 2 25,459,402 (GRCm39) missense probably damaging 1.00
R2128:Mamdc4 UTSW 2 25,459,270 (GRCm39) missense probably damaging 1.00
R2185:Mamdc4 UTSW 2 25,459,704 (GRCm39) critical splice donor site probably null
R2473:Mamdc4 UTSW 2 25,456,344 (GRCm39) missense probably damaging 0.99
R2496:Mamdc4 UTSW 2 25,455,914 (GRCm39) missense probably damaging 1.00
R3818:Mamdc4 UTSW 2 25,455,785 (GRCm39) missense probably benign
R4591:Mamdc4 UTSW 2 25,454,609 (GRCm39) missense possibly damaging 0.87
R4829:Mamdc4 UTSW 2 25,455,368 (GRCm39) missense possibly damaging 0.85
R4898:Mamdc4 UTSW 2 25,460,035 (GRCm39) missense probably damaging 0.98
R5209:Mamdc4 UTSW 2 25,456,935 (GRCm39) missense probably damaging 0.97
R5268:Mamdc4 UTSW 2 25,454,702 (GRCm39) missense possibly damaging 0.95
R5490:Mamdc4 UTSW 2 25,455,890 (GRCm39) missense probably damaging 1.00
R6152:Mamdc4 UTSW 2 25,457,451 (GRCm39) missense probably damaging 1.00
R6234:Mamdc4 UTSW 2 25,460,092 (GRCm39) missense probably damaging 1.00
R6681:Mamdc4 UTSW 2 25,457,756 (GRCm39) missense probably damaging 1.00
R6774:Mamdc4 UTSW 2 25,456,948 (GRCm39) missense probably benign 0.06
R7178:Mamdc4 UTSW 2 25,458,977 (GRCm39) missense probably benign 0.04
R7225:Mamdc4 UTSW 2 25,455,558 (GRCm39) missense possibly damaging 0.50
R7451:Mamdc4 UTSW 2 25,454,473 (GRCm39) missense possibly damaging 0.80
R7520:Mamdc4 UTSW 2 25,455,360 (GRCm39) missense possibly damaging 0.88
R7627:Mamdc4 UTSW 2 25,458,225 (GRCm39) missense probably damaging 1.00
R7875:Mamdc4 UTSW 2 25,458,677 (GRCm39) nonsense probably null
R8041:Mamdc4 UTSW 2 25,454,707 (GRCm39) missense probably damaging 1.00
R8144:Mamdc4 UTSW 2 25,457,019 (GRCm39) missense probably damaging 0.99
R8201:Mamdc4 UTSW 2 25,456,093 (GRCm39) missense probably damaging 1.00
R8213:Mamdc4 UTSW 2 25,456,368 (GRCm39) missense probably benign 0.17
R8531:Mamdc4 UTSW 2 25,457,730 (GRCm39) missense possibly damaging 0.56
R9069:Mamdc4 UTSW 2 25,453,371 (GRCm39) missense probably damaging 1.00
R9440:Mamdc4 UTSW 2 25,455,600 (GRCm39) missense probably benign
R9446:Mamdc4 UTSW 2 25,453,645 (GRCm39) missense probably benign
R9486:Mamdc4 UTSW 2 25,455,164 (GRCm39) missense probably benign 0.00
R9551:Mamdc4 UTSW 2 25,460,035 (GRCm39) missense probably damaging 0.98
R9626:Mamdc4 UTSW 2 25,458,273 (GRCm39) missense probably damaging 1.00
X0022:Mamdc4 UTSW 2 25,460,204 (GRCm39) missense probably damaging 1.00
X0025:Mamdc4 UTSW 2 25,454,698 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CTTCGAAGTAGAACAGGGACC -3'
(R):5'- AGATCACAGCCGCAACAGTG -3'

Sequencing Primer
(F):5'- TGCCTGCAGGAACAGCTG -3'
(R):5'- ACAGTGCATACGGTGAGGTCTC -3'
Posted On 2021-04-30