Incidental Mutation 'R3852:Ms4a4c'
ID 275993
Institutional Source Beutler Lab
Gene Symbol Ms4a4c
Ensembl Gene ENSMUSG00000024675
Gene Name membrane-spanning 4-domains, subfamily A, member 4C
Synonyms 5830413L19Rik
MMRRC Submission 040784-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3852 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 11382134-11404610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11393759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 68 (S68T)
Ref Sequence ENSEMBL: ENSMUSP00000118694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072729] [ENSMUST00000119366] [ENSMUST00000153546]
AlphaFold Q9D3F6
Predicted Effect probably benign
Transcript: ENSMUST00000072729
AA Change: S68T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: S68T

DomainStartEndE-ValueType
Pfam:CD20 43 142 1.7e-20 PFAM
transmembrane domain 147 169 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119366
AA Change: S60T

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
AA Change: S60T

DomainStartEndE-ValueType
Pfam:CD20 35 179 3.9e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153546
AA Change: S68T

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118694
Gene: ENSMUSG00000024675
AA Change: S68T

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,379,189 (GRCm39) V685A probably damaging Het
Abhd4 T C 14: 54,502,824 (GRCm39) Y44H probably damaging Het
AI429214 A G 8: 37,461,596 (GRCm39) D248G probably damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Ccdc34 A G 2: 109,862,773 (GRCm39) K193E possibly damaging Het
Dhcr24 A G 4: 106,431,070 (GRCm39) E253G probably benign Het
Dnah6 A G 6: 73,104,910 (GRCm39) V1841A possibly damaging Het
Dpp10 A T 1: 123,413,653 (GRCm39) Y186* probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Dusp7 T A 9: 106,251,092 (GRCm39) S406T probably benign Het
Gga3 T A 11: 115,478,368 (GRCm39) T475S probably benign Het
Gm10271 T A 10: 116,792,779 (GRCm39) K36* probably null Het
Gm572 G A 4: 148,753,329 (GRCm39) E325K possibly damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
Igf1 A T 10: 87,751,181 (GRCm39) K126* probably null Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Klhl1 A T 14: 96,517,641 (GRCm39) M345K probably benign Het
Lrp2 A G 2: 69,367,909 (GRCm39) V201A probably damaging Het
Lrrc8a C T 2: 30,151,972 (GRCm39) T757M probably benign Het
Mios T A 6: 8,216,453 (GRCm39) I459K probably benign Het
Mrps11 T C 7: 78,440,393 (GRCm39) I94T probably damaging Het
Mstn C T 1: 53,101,130 (GRCm39) T69I possibly damaging Het
Myo10 A G 15: 25,779,712 (GRCm39) K28E probably damaging Het
Nol6 A G 4: 41,117,452 (GRCm39) S914P probably damaging Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or51f1e T C 7: 102,747,391 (GRCm39) S148P probably damaging Het
Or52b4 C A 7: 102,184,487 (GRCm39) H178N probably benign Het
Pcdh17 C T 14: 84,684,699 (GRCm39) Q389* probably null Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Prr14l T C 5: 32,987,689 (GRCm39) E602G probably damaging Het
Rusc2 C A 4: 43,416,424 (GRCm39) Q577K probably benign Het
Sacm1l T A 9: 123,416,641 (GRCm39) M534K probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Tas2r104 A T 6: 131,661,888 (GRCm39) C274S probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim43c T A 9: 88,722,454 (GRCm39) H33Q probably damaging Het
Ttc17 A T 2: 94,199,758 (GRCm39) I411K possibly damaging Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Ttn A C 2: 76,785,368 (GRCm39) V669G possibly damaging Het
Vmn1r60 A T 7: 5,548,026 (GRCm39) F25I possibly damaging Het
Vmn2r9 A G 5: 108,995,997 (GRCm39) I217T probably damaging 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
R4421:Ms4a4c UTSW 19 11,393,739 (GRCm39) missense probably damaging 1.00
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'- CCCGTATGAATGGCATGTGG -3'

Sequencing Primer
(F):5'- CACTCTGAGTTTAGTGCTTTGTC -3'
(R):5'- TGTGAACAAGGAAATACTGCATC -3'
Posted On 2015-04-06