Incidental Mutation 'R4347:Srek1'
ID 328377
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 041102-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R4347 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 103875856-103911116 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103885267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 396 (G396D)
Ref Sequence ENSEMBL: ENSMUSP00000147737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074616] [ENSMUST00000074616] [ENSMUST00000210489] [ENSMUST00000210489] [ENSMUST00000210836] [ENSMUST00000211322]
AlphaFold Q8BZX4
Predicted Effect probably null
Transcript: ENSMUST00000074616
AA Change: G512D
SMART Domains Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: G512D

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 probably null
Transcript: ENSMUST00000074616
AA Change: G512D
SMART Domains Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: G512D

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 probably null
Transcript: ENSMUST00000210489
AA Change: G396D
Predicted Effect probably null
Transcript: ENSMUST00000210489
AA Change: G396D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210643
Predicted Effect probably benign
Transcript: ENSMUST00000210836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211491
Predicted Effect probably benign
Transcript: ENSMUST00000211322
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,122 (GRCm39) V92M probably damaging Het
4930503E14Rik C A 14: 44,408,635 (GRCm39) R66S probably damaging Het
Abca5 A T 11: 110,190,794 (GRCm39) I772N probably damaging Het
Acox1 T C 11: 116,089,487 (GRCm39) N15S probably benign Het
Arhgap28 C T 17: 68,180,137 (GRCm39) V233I probably benign Het
Chil4 T C 3: 106,110,144 (GRCm39) I317V probably benign Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Efl1 A T 7: 82,347,174 (GRCm39) M567L probably damaging Het
Gal3st2b C T 1: 93,867,530 (GRCm39) T59I probably damaging Het
Gm7135 T A 1: 97,276,035 (GRCm39) noncoding transcript Het
Gpihbp1 T G 15: 75,470,017 (GRCm39) *124G probably null Het
Igkv10-96 T A 6: 68,609,164 (GRCm39) R44W probably benign Het
Igkv13-84 T A 6: 68,916,760 (GRCm39) I19K probably benign Het
Kcnab1 A G 3: 65,204,896 (GRCm39) probably benign Het
Kif1b C A 4: 149,331,691 (GRCm39) G545C probably damaging Het
Mprip T C 11: 59,650,279 (GRCm39) S1328P possibly damaging Het
Nrp1 T C 8: 129,207,472 (GRCm39) probably null Het
Olfml1 C T 7: 107,167,040 (GRCm39) P23L probably benign Het
Plekhh2 G A 17: 84,927,130 (GRCm39) A1457T probably benign Het
Prr27 A G 5: 87,990,531 (GRCm39) I40V possibly damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Trim3 C T 7: 105,268,594 (GRCm39) G120D probably damaging Het
Usp5 T A 6: 124,798,158 (GRCm39) Q409L probably damaging Het
Vim T G 2: 13,580,329 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAGTTCCTATATGGACGAACG -3'
(R):5'- AGAAGAGTTTAATGGGCCCG -3'

Sequencing Primer
(F):5'- TTCCTATATGGACGAACGGGATG -3'
(R):5'- ACAGCTGTCTGCCATGTG -3'
Posted On 2015-07-07