Incidental Mutation 'ANU05:Srrm4'
ID 262483
Institutional Source Beutler Lab
Gene Symbol Srrm4
Ensembl Gene ENSMUSG00000063919
Gene Name serine/arginine repetitive matrix 4
Synonyms 1500001A10Rik, nSR100, flopsy, B230202K19Rik, fp, bv
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 116577334-116729876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 116605628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 210 (E210K)
Ref Sequence ENSEMBL: ENSMUSP00000075488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076124]
AlphaFold Q8BKA3
Predicted Effect unknown
Transcript: ENSMUST00000076124
AA Change: E210K
SMART Domains Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: E210K

DomainStartEndE-ValueType
low complexity region 102 202 N/A INTRINSIC
low complexity region 289 299 N/A INTRINSIC
Pfam:SRRM_C 455 518 4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126959
Predicted Effect unknown
Transcript: ENSMUST00000222119
AA Change: E7K
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
PHENOTYPE: Most homozygous null mice die neonatally with respiratory defects while survivors show tremors, head tilt, circling, premature neurogenesis, altered neurite outgrowth, cortical layering and axon guidance. Homozygotes for a spontaneous deletion show inner ear hair cell, balance and hearing defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign Het
Other mutations in Srrm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Srrm4 APN 5 116,584,616 (GRCm39) missense possibly damaging 0.86
IGL01291:Srrm4 APN 5 116,605,628 (GRCm39) missense unknown
IGL01873:Srrm4 APN 5 116,729,527 (GRCm39) utr 5 prime probably benign
IGL02553:Srrm4 APN 5 116,582,624 (GRCm39) unclassified probably benign
IGL03090:Srrm4 APN 5 116,587,643 (GRCm39) utr 3 prime probably benign
R0285:Srrm4 UTSW 5 116,605,848 (GRCm39) unclassified probably benign
R0386:Srrm4 UTSW 5 116,620,437 (GRCm39) splice site probably benign
R0825:Srrm4 UTSW 5 116,591,772 (GRCm39) missense unknown
R0845:Srrm4 UTSW 5 116,582,944 (GRCm39) splice site probably null
R1615:Srrm4 UTSW 5 116,585,359 (GRCm39) unclassified probably benign
R1874:Srrm4 UTSW 5 116,591,565 (GRCm39) utr 3 prime probably benign
R2037:Srrm4 UTSW 5 116,605,887 (GRCm39) unclassified probably benign
R3522:Srrm4 UTSW 5 116,584,603 (GRCm39) start codon destroyed probably null
R3968:Srrm4 UTSW 5 116,582,803 (GRCm39) unclassified probably benign
R4507:Srrm4 UTSW 5 116,584,612 (GRCm39) missense probably damaging 0.98
R4771:Srrm4 UTSW 5 116,613,234 (GRCm39) critical splice donor site probably null
R4815:Srrm4 UTSW 5 116,613,249 (GRCm39) missense unknown
R4817:Srrm4 UTSW 5 116,615,193 (GRCm39) missense unknown
R5383:Srrm4 UTSW 5 116,609,319 (GRCm39) unclassified probably benign
R5620:Srrm4 UTSW 5 116,587,672 (GRCm39) utr 3 prime probably benign
R5639:Srrm4 UTSW 5 116,729,418 (GRCm39) missense unknown
R6497:Srrm4 UTSW 5 116,605,550 (GRCm39) missense unknown
R7029:Srrm4 UTSW 5 116,582,851 (GRCm39) unclassified probably benign
R7166:Srrm4 UTSW 5 116,609,301 (GRCm39) missense unknown
R7514:Srrm4 UTSW 5 116,584,570 (GRCm39) missense probably damaging 0.98
R8187:Srrm4 UTSW 5 116,587,680 (GRCm39) missense unknown
R8309:Srrm4 UTSW 5 116,729,626 (GRCm39) start gained probably benign
R8391:Srrm4 UTSW 5 116,582,755 (GRCm39) missense unknown
R8685:Srrm4 UTSW 5 116,585,380 (GRCm39) missense unknown
R8750:Srrm4 UTSW 5 116,605,567 (GRCm39) missense unknown
R9019:Srrm4 UTSW 5 116,605,586 (GRCm39) missense unknown
R9102:Srrm4 UTSW 5 116,620,563 (GRCm39) missense unknown
R9676:Srrm4 UTSW 5 116,584,781 (GRCm39) unclassified probably benign
R9712:Srrm4 UTSW 5 116,620,452 (GRCm39) missense unknown
Z1176:Srrm4 UTSW 5 116,591,478 (GRCm39) nonsense probably null
Z1177:Srrm4 UTSW 5 116,591,695 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGCCAGTGGGGAATTTTACCCAG -3'
(R):5'- ACACTCGATGCAGCTTCTGTCC -3'

Sequencing Primer
(F):5'- TGGGGAATTTTACCCAGAACTG -3'
(R):5'- CCACAATGAGTAGCTcctaaccc -3'
Posted On 2015-02-04