Incidental Mutation 'R0963:Ms4a19'
ID 81430
Institutional Source Beutler Lab
Gene Symbol Ms4a19
Ensembl Gene ENSMUSG00000024728
Gene Name membrane-spanning 4-domains, subfamily A, member 19
Synonyms 1700025F22Rik
MMRRC Submission 039092-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0963 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11117028-11142684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11118921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
Ref Sequence ENSEMBL: ENSMUSP00000137806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078770] [ENSMUST00000180678] [ENSMUST00000181284] [ENSMUST00000181567]
AlphaFold Q9D9Y7
Predicted Effect possibly damaging
Transcript: ENSMUST00000078770
AA Change: T104A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077828
Gene: ENSMUSG00000024728
AA Change: T104A

DomainStartEndE-ValueType
Pfam:CD20 17 101 1.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000180678
AA Change: T63A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137968
Gene: ENSMUSG00000024728
AA Change: T63A

DomainStartEndE-ValueType
transmembrane domain 5 25 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000181284
AA Change: T63A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137829
Gene: ENSMUSG00000024728
AA Change: T63A

DomainStartEndE-ValueType
transmembrane domain 5 25 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000181567
AA Change: T63A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000137806
Gene: ENSMUSG00000024728
AA Change: T63A

DomainStartEndE-ValueType
transmembrane domain 5 25 N/A INTRINSIC
transmembrane domain 40 62 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,722,451 (GRCm39) D369G probably damaging Het
Adcy7 T C 8: 89,038,893 (GRCm39) V303A probably damaging Het
Afap1l1 A T 18: 61,870,001 (GRCm39) Y610N probably damaging Het
Agr3 T A 12: 35,984,433 (GRCm39) H53Q probably benign Het
Akr1d1 A G 6: 37,507,209 (GRCm39) I10M probably damaging Het
Atp4b G T 8: 13,440,014 (GRCm39) H111N probably benign Het
Bbs7 G T 3: 36,667,412 (GRCm39) A8E probably benign Het
Bsn C T 9: 107,989,006 (GRCm39) V2249M possibly damaging Het
Cpt1a T C 19: 3,431,634 (GRCm39) S685P probably damaging Het
Dhx57 A T 17: 80,582,956 (GRCm39) H163Q probably benign Het
Duox2 A C 2: 122,117,653 (GRCm39) C894G probably benign Het
Ecm1 T C 3: 95,643,900 (GRCm39) T209A possibly damaging Het
Glo1 T C 17: 30,819,085 (GRCm39) N79S probably benign Het
Htra1 T A 7: 130,584,009 (GRCm39) M388K possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jag2 C T 12: 112,878,934 (GRCm39) E496K probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Khdc1c A G 1: 21,439,833 (GRCm39) N128S probably benign Het
Lamc1 T C 1: 153,119,132 (GRCm39) N829S probably benign Het
Leprotl1 T C 8: 34,606,189 (GRCm39) Y33C probably damaging Het
Lypd11 A T 7: 24,423,047 (GRCm39) D90E probably benign Het
Map3k3 T A 11: 106,014,618 (GRCm39) S130T probably benign Het
Mip C T 10: 128,061,854 (GRCm39) A35V probably benign Het
Myh15 A G 16: 48,952,512 (GRCm39) R861G probably damaging Het
Myom1 A C 17: 71,384,762 (GRCm39) I718L possibly damaging Het
Naip6 C T 13: 100,452,983 (GRCm39) R26H probably benign Het
Or52e4 G A 7: 104,706,179 (GRCm39) C242Y probably damaging Het
Pde6b A G 5: 108,578,534 (GRCm39) E824G probably benign Het
Pramel24 T A 4: 143,453,678 (GRCm39) I262N possibly damaging Het
Rbm19 T G 5: 120,268,799 (GRCm39) S476A possibly damaging Het
Rpl39l T A 16: 9,992,162 (GRCm39) probably null Het
Sec24b A G 3: 129,834,554 (GRCm39) S79P probably benign Het
Slc15a2 G A 16: 36,594,935 (GRCm39) A146V probably damaging Het
Slmap T C 14: 26,189,675 (GRCm39) Y161C probably damaging Het
Smc4 T A 3: 68,933,259 (GRCm39) C652S probably damaging Het
Stab1 A G 14: 30,869,231 (GRCm39) I1499T probably damaging Het
Tnnt1 A G 7: 4,510,594 (GRCm39) L209P probably damaging Het
Trim52 T G 14: 106,344,973 (GRCm39) S210R probably benign Het
Tsc22d1 T A 14: 76,656,039 (GRCm39) N82K possibly damaging Het
Wdr75 T C 1: 45,856,470 (GRCm39) Y498H probably benign Het
Zfp955a C T 17: 33,462,726 (GRCm39) S56N probably benign Het
Other mutations in Ms4a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02821:Ms4a19 APN 19 11,118,897 (GRCm39) makesense probably null
R1490:Ms4a19 UTSW 19 11,118,902 (GRCm39) missense probably benign
R5528:Ms4a19 UTSW 19 11,118,999 (GRCm39) missense possibly damaging 0.90
R6324:Ms4a19 UTSW 19 11,140,811 (GRCm39) missense probably benign 0.01
R6351:Ms4a19 UTSW 19 11,119,765 (GRCm39) missense probably damaging 1.00
R9342:Ms4a19 UTSW 19 11,119,775 (GRCm39) missense possibly damaging 0.71
R9761:Ms4a19 UTSW 19 11,119,754 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTATTGCTAAGCTACACCCTCAGCC -3'
(R):5'- GGTCAATGCAAGTCCCATAGTCTACAC -3'

Sequencing Primer
(F):5'- ctacaccctcagccccAAC -3'
(R):5'- gctggagggagaaatgggac -3'
Posted On 2013-11-07