Incidental Mutation 'IGL03173:Ms4a14'
ID411918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ms4a14
Ensembl Gene ENSMUSG00000099398
Gene Namemembrane-spanning 4-domains, subfamily A, member 14
SynonymsLOC383435
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL03173
Quality Score
Status
Chromosome19
Chromosomal Location11301249-11314454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 11304196 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 333 (L333F)
Ref Sequence ENSEMBL: ENSMUSP00000140996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187467]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181137
Predicted Effect possibly damaging
Transcript: ENSMUST00000187467
AA Change: L333F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: L333F

DomainStartEndE-ValueType
Pfam:CD20 44 182 2.9e-27 PFAM
internal_repeat_2 356 466 2.78e-10 PROSPERO
internal_repeat_1 390 506 1.75e-17 PROSPERO
low complexity region 522 540 N/A INTRINSIC
low complexity region 625 640 N/A INTRINSIC
low complexity region 642 660 N/A INTRINSIC
internal_repeat_1 665 786 1.75e-17 PROSPERO
internal_repeat_2 700 811 2.78e-10 PROSPERO
low complexity region 911 936 N/A INTRINSIC
low complexity region 975 992 N/A INTRINSIC
low complexity region 1079 1092 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2b T C 12: 105,658,294 K649E possibly damaging Het
B230359F08Rik T C 14: 53,796,077 probably benign Het
Cnnm4 A G 1: 36,473,092 probably benign Het
Cntrob C T 11: 69,310,027 A503T possibly damaging Het
D3Ertd751e T A 3: 41,756,062 Y170N probably damaging Het
Ddx23 T C 15: 98,651,004 I306V probably benign Het
Ep400 A G 5: 110,708,871 probably benign Het
Gmps T C 3: 63,990,329 V234A probably damaging Het
Hivep2 G T 10: 14,127,982 G108V possibly damaging Het
Irgc1 T C 7: 24,433,302 E30G probably damaging Het
Krt75 T C 15: 101,572,727 Y204C probably damaging Het
Olfr1065 A T 2: 86,445,444 C179* probably null Het
Olfr1440 T A 19: 12,395,046 M261K possibly damaging Het
Olfr630 A G 7: 103,754,976 V203A probably benign Het
Pitpnm3 G A 11: 72,092,563 T80I probably benign Het
Pou2f2 T C 7: 25,099,946 probably benign Het
Slc34a1 T C 13: 55,413,276 L518P probably damaging Het
Sorbs1 T A 19: 40,363,262 T235S probably damaging Het
Ssxa1 C T X: 21,118,985 R41C probably benign Het
Syt2 A G 1: 134,743,579 N142D possibly damaging Het
Taf3 A G 2: 9,952,927 V143A probably damaging Het
Tti1 A G 2: 158,007,012 probably benign Het
Vmn2r13 T C 5: 109,171,779 E445G possibly damaging Het
Zfp663 G T 2: 165,352,499 T600K probably damaging Het
Zfp750 G A 11: 121,513,825 Q75* probably null Het
Other mutations in Ms4a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Ms4a14 APN 19 11301619 missense possibly damaging 0.73
IGL03131:Ms4a14 APN 19 11307692 missense probably benign 0.01
IGL03136:Ms4a14 APN 19 11304411 missense possibly damaging 0.85
IGL03210:Ms4a14 APN 19 11301961 missense possibly damaging 0.96
R0054:Ms4a14 UTSW 19 11303939 missense probably benign 0.00
R2895:Ms4a14 UTSW 19 11304231 missense possibly damaging 0.73
R4455:Ms4a14 UTSW 19 11303626 missense possibly damaging 0.53
R4574:Ms4a14 UTSW 19 11303971 missense probably benign
R4804:Ms4a14 UTSW 19 11304040 missense possibly damaging 0.73
R4815:Ms4a14 UTSW 19 11314277 missense probably benign 0.00
R4854:Ms4a14 UTSW 19 11310369 missense possibly damaging 0.51
R4858:Ms4a14 UTSW 19 11301612 missense probably benign 0.33
R5002:Ms4a14 UTSW 19 11304289 missense probably benign
R5382:Ms4a14 UTSW 19 11303057 missense possibly damaging 0.70
R5580:Ms4a14 UTSW 19 11303226 missense probably benign 0.33
R5626:Ms4a14 UTSW 19 11304055 missense probably benign
R5767:Ms4a14 UTSW 19 11302027 missense probably benign 0.18
R5801:Ms4a14 UTSW 19 11301786 missense possibly damaging 0.86
R5801:Ms4a14 UTSW 19 11301882 missense possibly damaging 0.73
R5865:Ms4a14 UTSW 19 11304217 missense possibly damaging 0.73
R5919:Ms4a14 UTSW 19 11314297 missense possibly damaging 0.86
R6261:Ms4a14 UTSW 19 11304020 missense probably benign 0.33
R6585:Ms4a14 UTSW 19 11303645 missense unknown
R6974:Ms4a14 UTSW 19 11302135 missense probably benign
R7401:Ms4a14 UTSW 19 11302230 missense possibly damaging 0.72
R7445:Ms4a14 UTSW 19 11302972 missense probably benign 0.00
R7489:Ms4a14 UTSW 19 11302031 missense probably benign 0.07
R7524:Ms4a14 UTSW 19 11303836 missense unknown
R7532:Ms4a14 UTSW 19 11303959 missense possibly damaging 0.86
R7689:Ms4a14 UTSW 19 11302542 missense probably benign 0.33
R7732:Ms4a14 UTSW 19 11301683 missense probably benign
R7737:Ms4a14 UTSW 19 11302786 nonsense probably null
R7860:Ms4a14 UTSW 19 11302944 missense probably benign
R8098:Ms4a14 UTSW 19 11304615 missense possibly damaging 0.53
Posted On2016-08-02