Incidental Mutation 'IGL02806:Ms4a4d'
ID360405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a4d
Ensembl Gene ENSMUSG00000024678
Gene Namemembrane-spanning 4-domains, subfamily A, member 4D
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02806
Quality Score
Status
Chromosome19
Chromosomal Location11536801-11558467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11556246 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 164 (S164P)
Ref Sequence ENSEMBL: ENSMUSP00000025581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025581]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025581
AA Change: S164P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: S164P

DomainStartEndE-ValueType
Pfam:CD20 43 141 1.5e-18 PFAM
transmembrane domain 146 168 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,946,494 D1274G possibly damaging Het
Acot4 A G 12: 84,041,963 D195G probably damaging Het
Acsm1 G A 7: 119,636,638 D194N probably benign Het
Akr1b3 T C 6: 34,304,319 Y310C probably damaging Het
Aldh6a1 T C 12: 84,439,640 D168G probably damaging Het
Ankrd29 A C 18: 12,275,738 S166A probably benign Het
Ap1m2 T G 9: 21,305,683 D119A probably damaging Het
Atp1a3 T C 7: 24,981,872 K776R probably damaging Het
Cacna2d3 A C 14: 29,351,950 probably null Het
Ccdc51 T C 9: 109,092,248 M401T probably benign Het
Cchcr1 A G 17: 35,525,256 probably benign Het
Cspg4 T C 9: 56,890,259 S1336P possibly damaging Het
Ddx60 T A 8: 61,956,122 D397E probably benign Het
Duox2 T C 2: 122,284,666 H1110R probably damaging Het
Ephb3 C A 16: 21,222,281 D696E probably benign Het
Ermap T C 4: 119,188,916 K6E possibly damaging Het
Gm3095 A G 14: 3,964,519 D79G possibly damaging Het
Hnrnpab A G 11: 51,605,478 S126P probably benign Het
Hyou1 C A 9: 44,388,883 S823* probably null Het
Klhl31 T A 9: 77,655,774 V607E probably damaging Het
Klrc3 A T 6: 129,639,102 C209S possibly damaging Het
Lhx4 G A 1: 155,702,229 P389L probably benign Het
Lmntd2 T C 7: 141,212,039 T264A probably benign Het
Mkx T C 18: 6,937,025 D302G probably damaging Het
Myo1e A G 9: 70,362,270 E651G probably benign Het
Myo5b G A 18: 74,617,080 probably null Het
Ncoa3 A G 2: 166,052,432 I298V probably benign Het
Nek1 G A 8: 61,044,086 M389I probably benign Het
Nid1 T A 13: 13,468,312 D278E probably benign Het
Nkx2-9 C T 12: 56,611,920 V170M probably damaging Het
Olfr610 T A 7: 103,506,003 K314N probably benign Het
Oxsr1 T C 9: 119,241,194 D511G possibly damaging Het
Pramef17 T A 4: 143,992,931 probably null Het
Rbm44 T C 1: 91,153,077 L329S possibly damaging Het
Setd7 A T 3: 51,550,267 N46K probably damaging Het
Snx10 T A 6: 51,588,349 F149I probably damaging Het
Sult2a3 T A 7: 14,122,932 E21V probably damaging Het
Tas2r135 T C 6: 42,406,448 F307S probably benign Het
Tmem131l T C 3: 83,928,816 probably benign Het
Tnfsf18 T G 1: 161,503,779 M166R possibly damaging Het
Toe1 C T 4: 116,806,330 V88M possibly damaging Het
Ttk T A 9: 83,862,487 C577* probably null Het
Ush2a T A 1: 188,810,357 Y3373* probably null Het
Vwa8 A G 14: 79,157,088 D1543G probably benign Het
Zfhx4 A T 3: 5,390,408 H1154L probably benign Het
Other mutations in Ms4a4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Ms4a4d APN 19 11557971 missense probably damaging 0.99
IGL00951:Ms4a4d APN 19 11554921 missense probably benign 0.00
IGL02627:Ms4a4d APN 19 11548623 missense probably damaging 1.00
IGL02868:Ms4a4d APN 19 11550282 missense probably damaging 1.00
R0010:Ms4a4d UTSW 19 11554826 missense probably damaging 1.00
R1134:Ms4a4d UTSW 19 11557934 missense possibly damaging 0.49
R4932:Ms4a4d UTSW 19 11557932 missense probably benign 0.05
R5169:Ms4a4d UTSW 19 11557976 missense possibly damaging 0.80
R5390:Ms4a4d UTSW 19 11548640 critical splice donor site probably null
R6581:Ms4a4d UTSW 19 11554840 missense probably damaging 0.99
R7014:Ms4a4d UTSW 19 11548583 missense probably benign 0.17
R7429:Ms4a4d UTSW 19 11557933 missense probably benign 0.38
R7430:Ms4a4d UTSW 19 11557933 missense probably benign 0.38
R8132:Ms4a4d UTSW 19 11557946 missense probably benign 0.02
Posted On2015-12-18