Incidental Mutation 'R6568:Ms4a13'
ID 526178
Institutional Source Beutler Lab
Gene Symbol Ms4a13
Ensembl Gene ENSMUSG00000057240
Gene Name membrane-spanning 4-domains, subfamily A, member 13
Synonyms 1700060E18Rik
MMRRC Submission 044692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 11146782-11174101 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11168923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 34 (L34P)
Ref Sequence ENSEMBL: ENSMUSP00000140293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073380] [ENSMUST00000188464]
AlphaFold Q5FWC3
Predicted Effect probably damaging
Transcript: ENSMUST00000073380
AA Change: L34P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: L34P

DomainStartEndE-ValueType
Pfam:CD20 15 137 6.3e-10 PFAM
transmembrane domain 139 161 N/A INTRINSIC
low complexity region 189 200 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188464
AA Change: L34P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: L34P

DomainStartEndE-ValueType
Pfam:CD20 15 152 2.1e-24 PFAM
low complexity region 160 171 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T C 1: 138,779,872 (GRCm39) K127E possibly damaging Het
Ash1l G A 3: 88,959,344 (GRCm39) M2240I probably benign Het
Bhmt1b A T 18: 87,775,566 (GRCm39) Y363F probably benign Het
Ccr5 G A 9: 123,925,236 (GRCm39) A280T probably damaging Het
Ceacam5 C T 7: 17,479,416 (GRCm39) L178F probably damaging Het
Col2a1 T C 15: 97,875,157 (GRCm39) N1259S unknown Het
Doc2b A C 11: 75,667,820 (GRCm39) probably null Het
Fryl T C 5: 73,216,859 (GRCm39) N2144D probably damaging Het
Hdac1-ps A G 17: 78,800,017 (GRCm39) Y336C probably damaging Het
Ighv1-34 A T 12: 114,815,231 (GRCm39) W5R probably benign Het
Kdr A G 5: 76,122,434 (GRCm39) V497A probably benign Het
Miip T A 4: 147,950,372 (GRCm39) M75L probably benign Het
Mplkip T C 13: 17,870,262 (GRCm39) S65P probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nek1 T C 8: 61,559,855 (GRCm39) S896P probably benign Het
Or5ac17 A T 16: 59,036,641 (GRCm39) C112S probably benign Het
Polr3b T A 10: 84,470,767 (GRCm39) M136K probably damaging Het
Rgsl1 A C 1: 153,697,292 (GRCm39) W508G possibly damaging Het
Ros1 A T 10: 52,038,908 (GRCm39) M354K probably damaging Het
Slc34a2 T C 5: 53,226,476 (GRCm39) L533P probably damaging Het
Taf2 G A 15: 54,928,026 (GRCm39) L126F probably damaging Het
Tlr12 T C 4: 128,511,785 (GRCm39) D155G probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Zfp942 T G 17: 22,148,043 (GRCm39) K195N probably benign Het
Other mutations in Ms4a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00789:Ms4a13 APN 19 11,162,478 (GRCm39) missense probably damaging 1.00
IGL02458:Ms4a13 APN 19 11,149,292 (GRCm39) missense probably benign
IGL03259:Ms4a13 APN 19 11,161,210 (GRCm39) missense probably damaging 0.99
R0465:Ms4a13 UTSW 19 11,149,957 (GRCm39) missense probably benign 0.42
R0539:Ms4a13 UTSW 19 11,149,235 (GRCm39) intron probably benign
R1327:Ms4a13 UTSW 19 11,161,251 (GRCm39) missense probably damaging 1.00
R1500:Ms4a13 UTSW 19 11,161,225 (GRCm39) missense probably damaging 1.00
R5859:Ms4a13 UTSW 19 11,161,280 (GRCm39) nonsense probably null
R5888:Ms4a13 UTSW 19 11,168,870 (GRCm39) missense probably benign 0.01
R5940:Ms4a13 UTSW 19 11,170,330 (GRCm39) missense possibly damaging 0.83
R6597:Ms4a13 UTSW 19 11,170,303 (GRCm39) missense probably benign
R6678:Ms4a13 UTSW 19 11,161,222 (GRCm39) missense probably benign 0.34
R6919:Ms4a13 UTSW 19 11,149,249 (GRCm39) missense probably benign 0.00
R7596:Ms4a13 UTSW 19 11,147,329 (GRCm39) missense unknown
R8797:Ms4a13 UTSW 19 11,161,200 (GRCm39) missense probably benign 0.00
R9060:Ms4a13 UTSW 19 11,168,950 (GRCm39) missense
R9519:Ms4a13 UTSW 19 11,147,332 (GRCm39) missense unknown
R9545:Ms4a13 UTSW 19 11,147,332 (GRCm39) missense unknown
Z1177:Ms4a13 UTSW 19 11,149,948 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGAGTAAGTCAGCAAGTGGC -3'
(R):5'- AACTCCATAGTTAGTGCATGACC -3'

Sequencing Primer
(F):5'- ACTTTGTTCAGAAACTAGCTCCTAC -3'
(R):5'- CCATAGTTAGTGCATGACCAGTTTAC -3'
Posted On 2018-06-22