Incidental Mutation 'R2185:Mamdc4'
ID 237800
Institutional Source Beutler Lab
Gene Symbol Mamdc4
Ensembl Gene ENSMUSG00000026941
Gene Name MAM domain containing 4
Synonyms LOC381352
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25453124-25461328 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 25459704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000095117] [ENSMUST00000095117] [ENSMUST00000114223] [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 null
Transcript: ENSMUST00000095117
SMART Domains Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941

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 probably null
Transcript: ENSMUST00000095117
SMART Domains Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941

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 probably null
Transcript: ENSMUST00000114223
SMART Domains Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941

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 probably null
Transcript: ENSMUST00000114223
SMART Domains Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941

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 noncoding transcript
Transcript: ENSMUST00000135288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147096
Predicted Effect probably null
Transcript: ENSMUST00000152237
SMART Domains Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941

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
Predicted Effect probably null
Transcript: ENSMUST00000152237
SMART Domains Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152124
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S 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
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
R8810:Mamdc4 UTSW 2 25,458,501 (GRCm39) missense probably benign 0.01
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'- CAGCTCAGCGACATCTGTAG -3'
(R):5'- TTGGGTAAGGCCTAGGGAATC -3'

Sequencing Primer
(F):5'- CTCAGCGACATCTGTAGTATTTTGAG -3'
(R):5'- TAAGGCCTAGGGAATCCACGTC -3'
Posted On 2014-10-02