Incidental Mutation 'R7166:Srrm4'
ID 557932
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 045227-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7166 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 116577334-116729876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116609301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 172 (Q172L)
Ref Sequence ENSEMBL: ENSMUSP00000075488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076124]
AlphaFold Q8BKA3
Predicted Effect unknown
Transcript: ENSMUST00000076124
AA Change: Q172L
SMART Domains Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: Q172L

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 probably benign
Transcript: ENSMUST00000222119
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn T C 5: 88,615,387 (GRCm39) L272P possibly damaging Het
Ash2l C A 8: 26,317,348 (GRCm39) G335V probably damaging Het
Atp13a1 T A 8: 70,251,966 (GRCm39) probably null Het
Atp13a2 G A 4: 140,734,295 (GRCm39) R1139Q possibly damaging Het
Atxn2 T A 5: 121,934,460 (GRCm39) N886K possibly damaging Het
Celsr3 G T 9: 108,720,150 (GRCm39) C2512F probably damaging Het
Cfap221 A G 1: 119,875,843 (GRCm39) V449A probably benign Het
Cfhr2 A T 1: 139,758,839 (GRCm39) C70* probably null Het
Chfr C A 5: 110,306,671 (GRCm39) P472Q probably benign Het
Crybg2 G A 4: 133,788,193 (GRCm39) R22Q probably damaging Het
Eef2k T C 7: 120,483,995 (GRCm39) F244L probably damaging Het
Efcab11 A T 12: 99,849,614 (GRCm39) M23K Het
Eif4a3l2 A G 6: 116,528,329 (GRCm39) I69V probably benign Het
Ercc8 T A 13: 108,305,967 (GRCm39) M114K possibly damaging Het
Fam217a T C 13: 35,094,298 (GRCm39) Y487C probably benign Het
Farsb T C 1: 78,447,821 (GRCm39) N205S probably benign Het
Glra1 A G 11: 55,405,904 (GRCm39) F370S probably benign Het
Gm12258 T A 11: 58,749,299 (GRCm39) M158K Het
Gm14305 T A 2: 176,412,736 (GRCm39) H209Q probably damaging Het
Gm4924 A T 10: 82,214,035 (GRCm39) Q611L unknown Het
H4c11 A G 13: 21,919,321 (GRCm39) H19R unknown Het
Haus6 T C 4: 86,501,924 (GRCm39) E649G possibly damaging Het
Hlcs C T 16: 94,063,585 (GRCm39) D345N possibly damaging Het
Htt C A 5: 35,010,238 (GRCm39) Q1564K probably benign Het
Itpr1 G A 6: 108,355,151 (GRCm39) V481I probably benign Het
Jak3 T C 8: 72,134,960 (GRCm39) I531T probably damaging Het
Kng1 T A 16: 22,898,428 (GRCm39) H609Q probably benign Het
Mdn1 T A 4: 32,746,446 (GRCm39) S4131T probably damaging Het
Npnt A G 3: 132,653,889 (GRCm39) S31P probably damaging Het
Or1r1 A T 11: 73,875,121 (GRCm39) F104L possibly damaging Het
Or4c100 A T 2: 88,355,990 (GRCm39) Q21L possibly damaging Het
Or8h8 T A 2: 86,753,092 (GRCm39) K261N probably damaging Het
Paxx A T 2: 25,350,238 (GRCm39) L123Q probably damaging Het
Prdm13 C T 4: 21,683,528 (GRCm39) R144Q unknown Het
Rab2b C A 14: 52,516,802 (GRCm39) probably benign Het
Rnf207 A G 4: 152,396,237 (GRCm39) I509T probably damaging Het
Ropn1l T C 15: 31,453,655 (GRCm39) Q12R Het
Ryr3 T G 2: 112,705,373 (GRCm39) Y847S probably damaging Het
Slc1a6 A T 10: 78,648,646 (GRCm39) T456S possibly damaging Het
Slc26a2 A T 18: 61,331,901 (GRCm39) M510K possibly damaging Het
Slc5a9 T C 4: 111,741,036 (GRCm39) T537A probably benign Het
Slc9b2 T C 3: 135,031,939 (GRCm39) Y132H unknown Het
Sltm T C 9: 70,492,132 (GRCm39) L725S probably damaging Het
Spz1 A G 13: 92,712,435 (GRCm39) C14R probably benign Het
Synj2bp T C 12: 81,551,289 (GRCm39) D92G probably benign Het
Tmem169 A C 1: 72,340,229 (GRCm39) T220P probably benign Het
Ttn T A 2: 76,718,372 (GRCm39) I7270F unknown Het
Txndc16 T G 14: 45,420,611 (GRCm39) N137H probably benign Het
Ubr5 A G 15: 37,976,389 (GRCm39) Y2499H Het
Ugt2b38 T C 5: 87,558,305 (GRCm39) D452G probably damaging Het
Zfp12 T A 5: 143,231,257 (GRCm39) I560N possibly damaging Het
Zfp60 A G 7: 27,448,937 (GRCm39) K535R possibly damaging Het
Zfp960 T A 17: 17,308,761 (GRCm39) C492S 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
R6497:Srrm4 UTSW 5 116,605,550 (GRCm39) missense unknown
R7029:Srrm4 UTSW 5 116,582,851 (GRCm39) unclassified probably benign
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'- GTCTATCCATGCATACGCCAAC -3'
(R):5'- TTCTCATCACTGGGGCATGAG -3'

Sequencing Primer
(F):5'- ACGCCAACTCTTACTTTCAAGTGAG -3'
(R):5'- GCATGAGCCAGGAACCC -3'
Posted On 2019-06-26