Incidental Mutation 'R4591:Mamdc4'
ID 342800
Institutional Source Beutler Lab
Gene Symbol Mamdc4
Ensembl Gene ENSMUSG00000026941
Gene Name MAM domain containing 4
Synonyms LOC381352
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25453124-25461328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25454609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1068 (M1068L)
Ref Sequence ENSEMBL: ENSMUSP00000092735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015236] [ENSMUST00000095117] [ENSMUST00000114223]
AlphaFold A2AJA7
Predicted Effect probably benign
Transcript: ENSMUST00000015236
SMART Domains Protein: ENSMUSP00000015236
Gene: ENSMUSG00000015092

DomainStartEndE-ValueType
Pfam:MBF1 4 73 4.6e-29 PFAM
HTH_XRE 80 135 1.02e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095117
AA Change: M1068L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: M1068L

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 benign
Transcript: ENSMUST00000114223
AA Change: M1064L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: M1064L

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: ENSMUST00000134689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142288
Predicted Effect unknown
Transcript: ENSMUST00000152237
AA Change: M965L
SMART Domains Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: M965L

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: ENSMUST00000153008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144395
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign 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
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'- AGTTCAATCTGGACTTGTAGCC -3'
(R):5'- GCAGTGCTCACTCAACTTCC -3'

Sequencing Primer
(F):5'- CAATCTGGACTTGTAGCCACTGG -3'
(R):5'- TTCCCTCAAGCTCGAGATACAGATG -3'
Posted On 2015-09-24