Incidental Mutation 'R4421:Ms4a4c'
ID 327119
Institutional Source Beutler Lab
Gene Symbol Ms4a4c
Ensembl Gene ENSMUSG00000024675
Gene Name membrane-spanning 4-domains, subfamily A, member 4C
Synonyms 5830413L19Rik
MMRRC Submission 041142-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R4421 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11382134-11404610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11393739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 53 (I53K)
Ref Sequence ENSEMBL: ENSMUSP00000113130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072729] [ENSMUST00000119366] [ENSMUST00000153546]
AlphaFold Q9D3F6
Predicted Effect probably damaging
Transcript: ENSMUST00000072729
AA Change: I61K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: I61K

DomainStartEndE-ValueType
Pfam:CD20 43 142 1.7e-20 PFAM
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119366
AA Change: I53K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
AA Change: I53K

DomainStartEndE-ValueType
Pfam:CD20 35 179 3.9e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153546
AA Change: I61K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118694
Gene: ENSMUSG00000024675
AA Change: I61K

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 G C 9: 106,312,912 (GRCm39) probably null Het
Adgrv1 T C 13: 81,714,421 (GRCm39) E234G probably damaging Het
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
C1s2 T C 6: 124,602,174 (GRCm39) D673G probably benign Het
Capza3 G A 6: 139,987,768 (GRCm39) M122I probably benign Het
Cfap44 T C 16: 44,242,800 (GRCm39) S735P probably damaging Het
Cntn3 A G 6: 102,441,508 (GRCm39) F13L probably damaging Het
Col6a5 A T 9: 105,805,672 (GRCm39) M1078K unknown Het
Colgalt2 A T 1: 152,360,763 (GRCm39) I267F probably damaging Het
Cpped1 T C 16: 11,623,221 (GRCm39) *299W probably null Het
Cyp3a59 A G 5: 146,041,713 (GRCm39) probably null Het
Ddx42 T A 11: 106,121,964 (GRCm39) Y160N probably damaging Het
Dhx35 A T 2: 158,648,321 (GRCm39) R60W probably damaging Het
Gbp10 T C 5: 105,372,517 (GRCm39) probably null Het
Gtf2i T C 5: 134,283,891 (GRCm39) T467A possibly damaging Het
Hip1r G C 5: 124,135,925 (GRCm39) G542A possibly damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Kcnq3 T C 15: 65,867,360 (GRCm39) Y761C probably benign Het
Krt13 T G 11: 100,009,761 (GRCm39) T340P possibly damaging Het
Map2k5 A G 9: 63,071,412 (GRCm39) C435R probably damaging Het
Myh15 T A 16: 48,929,707 (GRCm39) F544L probably damaging Het
Neurod2 G T 11: 98,219,026 (GRCm39) S46* probably null Het
Nsd3 T A 8: 26,131,288 (GRCm39) S218T probably damaging Het
Or2ag2 G T 7: 106,485,660 (GRCm39) D121E probably damaging Het
Or4p22 A T 2: 88,317,585 (GRCm39) N170Y probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prrg3 A T X: 71,010,915 (GRCm39) S141C probably damaging Het
Ranbp17 A T 11: 33,425,056 (GRCm39) D433E probably benign Het
Rbm28 T C 6: 29,154,836 (GRCm39) D278G probably damaging Het
Sbpl A G 17: 24,173,860 (GRCm39) L8P unknown Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Tdrd3 A G 14: 87,723,719 (GRCm39) E311G probably damaging Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,708 (GRCm39) N619D probably damaging Het
Xab2 C A 8: 3,664,244 (GRCm39) probably null Het
Other mutations in Ms4a4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Ms4a4c APN 19 11,396,400 (GRCm39) missense probably damaging 1.00
IGL00687:Ms4a4c APN 19 11,398,682 (GRCm39) missense possibly damaging 0.94
IGL01142:Ms4a4c APN 19 11,403,614 (GRCm39) missense probably benign
IGL03128:Ms4a4c APN 19 11,395,005 (GRCm39) critical splice acceptor site probably null
IGL02980:Ms4a4c UTSW 19 11,393,747 (GRCm39) missense probably benign 0.01
R0012:Ms4a4c UTSW 19 11,396,344 (GRCm39) unclassified probably benign
R3852:Ms4a4c UTSW 19 11,393,759 (GRCm39) missense probably benign 0.32
R5209:Ms4a4c UTSW 19 11,393,802 (GRCm39) missense probably damaging 1.00
R6183:Ms4a4c UTSW 19 11,403,593 (GRCm39) missense possibly damaging 0.59
R6439:Ms4a4c UTSW 19 11,398,676 (GRCm39) missense probably benign 0.00
R6967:Ms4a4c UTSW 19 11,392,191 (GRCm39) missense probably benign
R8552:Ms4a4c UTSW 19 11,392,196 (GRCm39) nonsense probably null
R9006:Ms4a4c UTSW 19 11,396,360 (GRCm39) missense probably benign 0.43
R9448:Ms4a4c UTSW 19 11,392,317 (GRCm39) critical splice donor site probably null
Z1177:Ms4a4c UTSW 19 11,398,673 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- TGGAGAGAAAGATATGTACACACCC -3'
(R):5'- TCCCGTATGAATGGCATGTGG -3'

Sequencing Primer
(F):5'- CACTCTGAGTTTAGTGCTTTGTC -3'
(R):5'- CTGCATCAACTTGAATATGCTGTTC -3'
Posted On 2015-07-07