Incidental Mutation 'R0106:Srek1'
ID 17422
Institutional Source Beutler Lab
Gene Symbol Srek1
Ensembl Gene ENSMUSG00000032621
Gene Name splicing regulatory glutamine/lysine-rich protein 1
Synonyms SRrp86, Sfrs12, AL118220, SRrp508
MMRRC Submission 038392-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R0106 (G1)
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 103875856-103911116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103880131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 476 (H476Y)
Ref Sequence ENSEMBL: ENSMUSP00000147737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074616] [ENSMUST00000210489]
AlphaFold Q8BZX4
Predicted Effect unknown
Transcript: ENSMUST00000074616
AA Change: H592Y
SMART Domains Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: H592Y

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
RRM 70 141 1.22e-18 SMART
coiled coil region 259 298 N/A INTRINSIC
low complexity region 356 395 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 414 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210269
Predicted Effect unknown
Transcript: ENSMUST00000210489
AA Change: H476Y
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211491
Meta Mutation Damage Score 0.1745 question?
Coding Region Coverage
  • 1x: 87.6%
  • 3x: 83.1%
  • 10x: 68.0%
  • 20x: 43.0%
Validation Efficiency 97% (89/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik A T 11: 43,478,200 (GRCm39) probably benign Het
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abca5 A T 11: 110,210,651 (GRCm39) L176Q probably damaging Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
Bpifb4 A G 2: 153,782,888 (GRCm39) D31G probably benign Het
Brf1 A G 12: 112,937,083 (GRCm39) probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Cldn25 A G 9: 48,958,933 (GRCm39) noncoding transcript Het
Col11a2 A G 17: 34,276,249 (GRCm39) N799D probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dntt A T 19: 41,044,185 (GRCm39) probably benign Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Ephb6 T C 6: 41,596,528 (GRCm39) probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Glyctk G A 9: 106,033,168 (GRCm39) P124L probably benign Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H13 A G 2: 152,528,176 (GRCm39) K175R probably benign Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Macf1 G A 4: 123,302,357 (GRCm39) T715I probably benign Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nolc1 T A 19: 46,068,528 (GRCm39) probably benign Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Tmem131l C T 3: 83,842,122 (GRCm39) probably benign Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Trpm4 A G 7: 44,968,664 (GRCm39) probably null Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null Het
Other mutations in Srek1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Srek1 APN 13 103,897,090 (GRCm39) missense probably damaging 1.00
IGL01834:Srek1 APN 13 103,885,293 (GRCm39) unclassified probably benign
IGL03029:Srek1 APN 13 103,900,468 (GRCm39) utr 5 prime probably benign
IGL03198:Srek1 APN 13 103,881,443 (GRCm39) splice site probably null
IGL03284:Srek1 APN 13 103,897,045 (GRCm39) missense probably damaging 0.96
inscruitable UTSW 13 103,910,894 (GRCm39) missense probably damaging 1.00
PIT4453001:Srek1 UTSW 13 103,881,291 (GRCm39) critical splice donor site probably null
R0080:Srek1 UTSW 13 103,880,194 (GRCm39) missense unknown
R0082:Srek1 UTSW 13 103,880,194 (GRCm39) missense unknown
R0106:Srek1 UTSW 13 103,880,131 (GRCm39) missense unknown
R0506:Srek1 UTSW 13 103,897,098 (GRCm39) missense probably damaging 0.99
R0569:Srek1 UTSW 13 103,885,370 (GRCm39) unclassified probably benign
R0969:Srek1 UTSW 13 103,889,011 (GRCm39) unclassified probably benign
R1617:Srek1 UTSW 13 103,880,112 (GRCm39) missense unknown
R2098:Srek1 UTSW 13 103,881,363 (GRCm39) missense unknown
R2423:Srek1 UTSW 13 103,889,536 (GRCm39) nonsense probably null
R3950:Srek1 UTSW 13 103,881,403 (GRCm39) missense unknown
R4347:Srek1 UTSW 13 103,885,267 (GRCm39) missense probably null
R4676:Srek1 UTSW 13 103,894,695 (GRCm39) splice site probably benign
R4915:Srek1 UTSW 13 103,889,194 (GRCm39) utr 3 prime probably benign
R4915:Srek1 UTSW 13 103,889,071 (GRCm39) unclassified probably benign
R5119:Srek1 UTSW 13 103,889,064 (GRCm39) unclassified probably benign
R5677:Srek1 UTSW 13 103,895,752 (GRCm39) missense probably damaging 0.98
R6135:Srek1 UTSW 13 103,910,894 (GRCm39) missense probably damaging 1.00
R6458:Srek1 UTSW 13 103,880,076 (GRCm39) missense probably benign 0.01
R7406:Srek1 UTSW 13 103,905,890 (GRCm39) missense probably damaging 1.00
R8537:Srek1 UTSW 13 103,888,957 (GRCm39) unclassified probably benign
R9269:Srek1 UTSW 13 103,889,654 (GRCm39) critical splice acceptor site probably null
Posted On 2013-01-31