Incidental Mutation 'IGL00951:Ms4a4d'
ID29526
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: 0.062) question?
Stock #IGL00951
Quality Score
Status
Chromosome19
Chromosomal Location11536801-11558467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 11554921 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 144 (I144F)
Ref Sequence ENSEMBL: ENSMUSP00000025581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025581]
Predicted Effect probably benign
Transcript: ENSMUST00000025581
AA Change: I144F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: I144F

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Hp T C 8: 109,577,497 D24G possibly damaging Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Mpzl1 A G 1: 165,605,822 F87L probably damaging Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tagln T A 9: 45,930,872 N141I probably benign Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Vkorc1l1 C T 5: 129,982,267 T144I probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Ms4a4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Ms4a4d APN 19 11557971 missense probably damaging 0.99
IGL02627:Ms4a4d APN 19 11548623 missense probably damaging 1.00
IGL02806:Ms4a4d APN 19 11556246 missense possibly damaging 0.65
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
Posted On2013-04-17