Incidental Mutation 'R9712:Srrm4'
ID 730243
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R9712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 116577334-116729876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116620452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 92 (H92L)
Ref Sequence ENSEMBL: ENSMUSP00000075488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076124]
AlphaFold Q8BKA3
Predicted Effect unknown
Transcript: ENSMUST00000076124
AA Change: H92L
SMART Domains Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: H92L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik A T 19: 3,765,784 (GRCm39) M20L probably benign Het
Aadacl4fm1 C T 4: 144,255,354 (GRCm39) A258V probably benign Het
Abca8b T A 11: 109,833,163 (GRCm39) D1241V probably benign Het
Adam20 G A 8: 41,248,490 (GRCm39) R200H probably benign Het
Adcy10 T C 1: 165,340,681 (GRCm39) F229L probably damaging Het
Adsl A T 15: 80,839,840 (GRCm39) N126I probably benign Het
Ahnak AGATCTC A 19: 8,984,392 (GRCm39) probably benign Het
Ahnak GATCTCTAT GAT 19: 8,984,393 (GRCm39) probably benign Het
Aktip G A 8: 91,856,355 (GRCm39) P41S probably damaging Het
Alkbh3 C A 2: 93,811,318 (GRCm39) R258L probably damaging Het
Arfgap3 A G 15: 83,197,734 (GRCm39) Y341H probably benign Het
Arhgef26 C T 3: 62,331,034 (GRCm39) L583F probably damaging Het
Arhgef40 T C 14: 52,226,415 (GRCm39) I153T probably damaging Het
Atp1a1 T C 3: 101,498,757 (GRCm39) S179G probably benign Het
Bok T C 1: 93,614,229 (GRCm39) S21P probably damaging Het
Ccdc136 A G 6: 29,417,441 (GRCm39) E754G probably benign Het
Cers3 A G 7: 66,423,378 (GRCm39) K108E probably benign Het
Cmya5 T C 13: 93,201,881 (GRCm39) probably null Het
Col19a1 T C 1: 24,367,148 (GRCm39) E478G possibly damaging Het
Colec10 T A 15: 54,323,180 (GRCm39) S134R possibly damaging Het
Ctnnb1 A T 9: 120,784,895 (GRCm39) I514F probably damaging Het
Cux1 C T 5: 136,338,673 (GRCm39) E664K probably benign Het
Dars1 T C 1: 128,333,199 (GRCm39) Q75R probably benign Het
Disp1 T A 1: 182,917,379 (GRCm39) S16C probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Ect2l C T 10: 18,044,182 (GRCm39) V226I probably benign Het
Ep400 T A 5: 110,904,509 (GRCm39) H30L unknown Het
Ephx4 A G 5: 107,567,647 (GRCm39) I202V probably benign Het
Exoc3 A T 13: 74,341,027 (GRCm39) F259Y probably damaging Het
Ezr T C 17: 7,020,394 (GRCm39) E229G probably damaging Het
Fat1 A T 8: 45,470,417 (GRCm39) I1472L probably benign Het
Fsd1l T G 4: 53,679,972 (GRCm39) D223E probably benign Het
Gata6 A T 18: 11,059,064 (GRCm39) D377V possibly damaging Het
Gm12185 A T 11: 48,798,216 (GRCm39) M759K probably benign Het
Gm9922 C T 14: 101,966,893 (GRCm39) A120T unknown Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Hnrnph1 A G 11: 50,276,696 (GRCm39) S465G unknown Het
Ifi204 T C 1: 173,576,924 (GRCm39) Y559C probably damaging Het
Ift88 T C 14: 57,718,853 (GRCm39) S613P probably damaging Het
Kif21a G C 15: 90,869,528 (GRCm39) A441G probably damaging Het
Kif21a G T 15: 90,879,715 (GRCm39) T191K probably benign Het
Lrit1 T A 14: 36,782,084 (GRCm39) C252* probably null Het
Ncbp1 T A 4: 46,144,837 (GRCm39) D29E probably benign Het
Nlrp10 A T 7: 108,524,735 (GRCm39) D248E probably damaging Het
Nphp4 T G 4: 152,631,521 (GRCm39) V807G probably benign Het
Nsd1 T C 13: 55,393,856 (GRCm39) S589P possibly damaging Het
Oas1b T A 5: 120,952,550 (GRCm39) N80K probably damaging Het
Oprk1 T A 1: 5,669,096 (GRCm39) C181S probably damaging Het
Oprl1 T A 2: 181,360,212 (GRCm39) N89K probably damaging Het
Or5w12 A T 2: 87,502,105 (GRCm39) I202N probably benign Het
Or8k53 G A 2: 86,177,583 (GRCm39) H176Y probably benign Het
Pdcd11 A G 19: 47,117,741 (GRCm39) K1697E probably damaging Het
Pdp1 G A 4: 11,961,607 (GRCm39) H254Y probably benign Het
Pds5b A T 5: 150,729,128 (GRCm39) D1419V possibly damaging Het
Per1 G T 11: 68,991,475 (GRCm39) G3V probably benign Het
Pex16 C A 2: 92,206,988 (GRCm39) N55K probably damaging Het
Phldb2 C A 16: 45,595,340 (GRCm39) L862F probably benign Het
Pld5 T A 1: 175,791,572 (GRCm39) D478V probably benign Het
Pms2 T C 5: 143,851,614 (GRCm39) I177T probably damaging Het
Pou1f1 A T 16: 65,326,758 (GRCm39) E119D probably benign Het
Ppp2r1a A C 17: 21,179,058 (GRCm39) E295A probably damaging Het
Qrfprl A G 6: 65,433,124 (GRCm39) I315V probably benign Het
Rad51ap2 A T 12: 11,507,593 (GRCm39) N505I possibly damaging Het
Rasal3 A C 17: 32,615,536 (GRCm39) V434G probably damaging Het
Rasgrf2 C T 13: 92,136,092 (GRCm39) V6M Het
Rwdd1 A T 10: 33,877,152 (GRCm39) D197E Het
Scn11a A T 9: 119,619,076 (GRCm39) C755* probably null Het
Skil T C 3: 31,171,009 (GRCm39) S443P probably benign Het
Slc12a6 T C 2: 112,186,817 (GRCm39) C939R probably damaging Het
Slc25a36 A G 9: 96,961,230 (GRCm39) S269P probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tbc1d4 A T 14: 101,744,846 (GRCm39) V260E probably benign Het
Tbc1d8 T C 1: 39,424,313 (GRCm39) N593D probably damaging Het
Trex1 C A 9: 108,887,805 (GRCm39) R62L probably damaging Het
Trpm3 A T 19: 22,692,716 (GRCm39) D269V possibly damaging Het
Trpv4 G T 5: 114,771,211 (GRCm39) Y439* probably null Het
Ttn G A 2: 76,564,592 (GRCm39) T28515I probably damaging Het
Ucn2 G A 9: 108,815,571 (GRCm39) G111D probably damaging Het
Uhrf2 A G 19: 30,033,881 (GRCm39) I212V possibly damaging Het
Usp24 T A 4: 106,204,564 (GRCm39) M261K probably benign Het
Vmn1r235 A T 17: 21,481,960 (GRCm39) D95V probably benign Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q Het
Zfp1002 C T 2: 150,096,496 (GRCm39) R311Q probably benign Het
Zfp28 T C 7: 6,396,878 (GRCm39) C438R 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
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
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'- ACCCATTTAGTGCCTGGATC -3'
(R):5'- TGATTCTAAATGCCCTGACAGG -3'

Sequencing Primer
(F):5'- GTTGTGACAACAGCCATTGAGTCC -3'
(R):5'- CCTGACAGGCTTGCCTC -3'
Posted On 2022-10-06