Incidental Mutation 'R6497:Srrm4'
ID 523057
Institutional Source Beutler Lab
Gene Symbol Srrm4
Ensembl Gene ENSMUSG00000063919
Gene Name serine/arginine repetitive matrix 4
Synonyms 1500001A10Rik, nSR100, flopsy, B230202K19Rik, fp, bv
MMRRC Submission 044629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R6497 (G1)
Quality Score 198.009
Status Validated
Chromosome 5
Chromosomal Location 116577334-116729876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116605550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 236 (S236T)
Ref Sequence ENSEMBL: ENSMUSP00000075488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076124]
AlphaFold Q8BKA3
Predicted Effect unknown
Transcript: ENSMUST00000076124
AA Change: S236T
SMART Domains Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: S236T

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: S33T
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,793,544 (GRCm39) Y399N probably damaging Het
Acsm3 G A 7: 119,379,972 (GRCm39) probably null Het
Aldh16a1 T A 7: 44,794,361 (GRCm39) S556C possibly damaging Het
Armc7 T C 11: 115,367,077 (GRCm39) I74T probably benign Het
Atp13a4 T C 16: 29,298,719 (GRCm39) D80G probably damaging Het
Bicral A T 17: 47,136,499 (GRCm39) I237K probably damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Cd209c T C 8: 3,994,122 (GRCm39) K113E possibly damaging Het
Cdh20 G A 1: 109,993,528 (GRCm39) probably null Het
Clca3a1 A T 3: 144,465,020 (GRCm39) V71D possibly damaging Het
Cntnap5a T C 1: 116,505,627 (GRCm39) L1228P probably damaging Het
Cntrl A G 2: 35,025,584 (GRCm39) N85D possibly damaging Het
Coch G A 12: 51,649,504 (GRCm39) V272M probably benign Het
Col22a1 T C 15: 71,762,425 (GRCm39) E78G possibly damaging Het
Cyp2c66 T A 19: 39,151,821 (GRCm39) C179S probably damaging Het
Dsg3 A G 18: 20,670,305 (GRCm39) I681V probably benign Het
Egflam A T 15: 7,280,784 (GRCm39) probably null Het
Fut10 T A 8: 31,726,278 (GRCm39) D344E probably damaging Het
Gad2 C T 2: 22,558,269 (GRCm39) P329L probably damaging Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gprc6a T C 10: 51,491,797 (GRCm39) I476V probably benign Het
Limk2 A G 11: 3,310,492 (GRCm39) F71L probably benign Het
Neb A T 2: 52,148,301 (GRCm39) N2648K possibly damaging Het
Or51f5 T A 7: 102,424,657 (GRCm39) F309I probably benign Het
Or52d1 T C 7: 103,756,422 (GRCm39) probably benign Het
Or8d1b G A 9: 38,887,490 (GRCm39) V173I probably benign Het
Pcdhgb7 T A 18: 37,886,906 (GRCm39) V692E probably damaging Het
Pclo A C 5: 14,843,869 (GRCm39) K4802Q unknown Het
Primpol A T 8: 47,039,376 (GRCm39) probably null Het
Prr14 C T 7: 127,073,750 (GRCm39) R205C probably benign Het
Rbm12b1 T C 4: 12,146,431 (GRCm39) I801T probably benign Het
Ror2 A T 13: 53,285,955 (GRCm39) N86K probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Skint6 A G 4: 113,093,595 (GRCm39) Y183H probably damaging Het
Snapc3 G T 4: 83,371,363 (GRCm39) E388* probably null Het
Srrt G T 5: 137,295,768 (GRCm39) P193H probably damaging Het
Sspo A T 6: 48,472,142 (GRCm39) T810S possibly damaging Het
Stk36 A G 1: 74,642,391 (GRCm39) H6R probably damaging Het
Tiam2 A G 17: 3,557,102 (GRCm39) T1181A probably damaging Het
Tmem184a A G 5: 139,798,755 (GRCm39) F65L probably damaging Het
Vwa8 A G 14: 79,333,841 (GRCm39) I1330M probably benign Het
Zfp827 T A 8: 79,906,757 (GRCm39) M923K probably damaging 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
ANU05:Srrm4 UTSW 5 116,605,628 (GRCm39) missense unknown
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
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'- GAGCCAGTGGGGAATTTTACC -3'
(R):5'- GCTTCTGTCCCACAATGAGTAG -3'

Sequencing Primer
(F):5'- ACCCAGAACTGAATTAAAAGGTATC -3'
(R):5'- TGTCCCACAATGAGTAGCTCCTAAC -3'
Posted On 2018-06-06