Incidental Mutation 'R3522:Srrm4'
ID 267535
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 # R3522 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 116577334-116729876 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to C at 116584603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000144367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076124] [ENSMUST00000139425]
AlphaFold Q8BKA3
Predicted Effect probably benign
Transcript: ENSMUST00000076124
AA Change: M489R

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075488
Gene: ENSMUSG00000063919
AA Change: M489R

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 noncoding transcript
Transcript: ENSMUST00000133548
Predicted Effect probably null
Transcript: ENSMUST00000139425
AA Change: M1R
SMART Domains Protein: ENSMUSP00000144367
Gene: ENSMUSG00000063919
AA Change: M1R

Pfam:SRRM_C 1 30 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150127
Predicted Effect probably benign
Transcript: ENSMUST00000222119
Meta Mutation Damage Score 0.1681 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,592,378 (GRCm39) E888G probably damaging Het
Arhgef10 T C 8: 15,004,918 (GRCm39) F150S probably damaging Het
Atp10d G T 5: 72,396,500 (GRCm39) R235L probably benign Het
Cacna1b A G 2: 24,653,055 (GRCm39) V2A possibly damaging Het
Cand1 A T 10: 119,075,102 (GRCm39) L15Q probably benign Het
Cavin3 C A 7: 105,130,350 (GRCm39) G154V probably benign Het
Ccdc73 A T 2: 104,821,830 (GRCm39) D593V probably damaging Het
Cdk5rap2 T C 4: 70,168,647 (GRCm39) K161E probably damaging Het
Chil4 A T 3: 106,111,056 (GRCm39) N279K probably benign Het
Chst13 T G 6: 90,295,245 (GRCm39) D56A probably damaging Het
Cnn1 C A 9: 22,010,664 (GRCm39) H5N probably benign Het
Cpsf4l T A 11: 113,593,319 (GRCm39) K88N probably damaging Het
Ctnnbl1 G T 2: 157,713,113 (GRCm39) probably null Het
Dnah7a A C 1: 53,657,275 (GRCm39) F834V probably damaging Het
Fbxo41 A G 6: 85,461,163 (GRCm39) S182P probably benign Het
Fkbp5 T C 17: 28,634,970 (GRCm39) T180A probably benign Het
Flg2 T A 3: 93,127,334 (GRCm39) I2082N unknown Het
Gm4968 A G 6: 127,210,725 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 116,761,747 (GRCm39) H612Q probably benign Het
Gsg1 A T 6: 135,218,251 (GRCm39) V212D probably damaging Het
Hipk1 A G 3: 103,651,430 (GRCm39) V1111A probably damaging Het
Hormad1 A T 3: 95,483,596 (GRCm39) Q136L probably benign Het
Ifi35 T A 11: 101,348,511 (GRCm39) S147R probably benign Het
Iqca1l A G 5: 24,754,624 (GRCm39) probably null Het
Iqgap3 C T 3: 87,998,089 (GRCm39) A282V probably null Het
Jmy T C 13: 93,590,558 (GRCm39) D515G probably damaging Het
Kctd10 G A 5: 114,512,984 (GRCm39) R64C probably damaging Het
Kidins220 T C 12: 25,040,757 (GRCm39) V121A probably damaging Het
Lcn3 G A 2: 25,656,133 (GRCm39) V63M possibly damaging Het
Lmx1b T A 2: 33,529,543 (GRCm39) Y72F probably benign Het
Lrp1 T C 10: 127,389,424 (GRCm39) D3164G probably damaging Het
Mdh1b C T 1: 63,758,927 (GRCm39) V222M probably damaging Het
Mst1 T C 9: 107,958,702 (GRCm39) probably benign Het
Myo7b C A 18: 32,143,132 (GRCm39) V189F probably damaging Het
Ndc1 T C 4: 107,250,355 (GRCm39) S533P probably damaging Het
Ndrg3 T C 2: 156,785,947 (GRCm39) D164G probably damaging Het
Nol11 C T 11: 107,064,454 (GRCm39) C500Y possibly damaging Het
Nsd3 A G 8: 26,196,642 (GRCm39) N1208D probably benign Het
Nup155 C T 15: 8,186,162 (GRCm39) probably benign Het
Or5ak20 A T 2: 85,183,347 (GRCm39) C308S probably benign Het
Or6c38 A G 10: 128,929,711 (GRCm39) I44T possibly damaging Het
Or8b47 A G 9: 38,435,081 (GRCm39) T18A probably damaging Het
Or8b54 A T 9: 38,687,016 (GRCm39) D155V possibly damaging Het
Phf3 A G 1: 30,844,684 (GRCm39) L1425P probably damaging Het
Pla2r1 A G 2: 60,279,250 (GRCm39) Y777H probably damaging Het
Pld1 A G 3: 28,085,396 (GRCm39) E184G probably damaging Het
Plxna1 T C 6: 89,314,335 (GRCm39) probably null Het
Ptgfrn T C 3: 100,950,718 (GRCm39) E865G probably damaging Het
Ptpn13 G T 5: 103,737,720 (GRCm39) probably benign Het
Pygb G T 2: 150,670,473 (GRCm39) V763F probably benign Het
Ros1 A C 10: 51,967,091 (GRCm39) Y1705* probably null Het
Sec61a2 A G 2: 5,898,027 (GRCm39) F5L probably benign Het
Skint5 A G 4: 113,614,102 (GRCm39) probably null Het
Sntg2 A G 12: 30,362,566 (GRCm39) V60A probably damaging Het
Sppl2a A G 2: 126,762,242 (GRCm39) C280R possibly damaging Het
Sult1c2 T C 17: 54,279,043 (GRCm39) E91G probably damaging Het
Themis2 C G 4: 132,512,906 (GRCm39) R440P probably damaging Het
Tmem229a A G 6: 24,955,058 (GRCm39) L232P probably benign Het
Trappc1 T C 11: 69,215,248 (GRCm39) F43L probably damaging Het
Trappc11 A T 8: 47,951,708 (GRCm39) Y982N possibly damaging Het
Trpv6 A T 6: 41,604,339 (GRCm39) M139K probably damaging Het
Txnrd3 A G 6: 89,640,057 (GRCm39) probably null Het
Vmn1r184 T A 7: 25,967,008 (GRCm39) Y251* probably null Het
Vmn1r216 A G 13: 23,283,544 (GRCm39) N76D possibly damaging Het
Vmn1r71 C A 7: 10,481,792 (GRCm39) V233F probably benign Het
Vps13a A C 19: 16,743,857 (GRCm39) probably benign Het
Vwa5b2 A G 16: 20,420,358 (GRCm39) S756G probably damaging Het
Wdr36 T A 18: 32,994,538 (GRCm39) probably null Het
Wdr86 A G 5: 24,923,305 (GRCm39) V129A probably benign Het
Zfyve9 A G 4: 108,576,940 (GRCm39) L47S 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
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
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

Sequencing Primer
Posted On 2015-02-18