Incidental Mutation 'R5944:Srsf11'
ID 460468
Institutional Source Beutler Lab
Gene Symbol Srsf11
Ensembl Gene ENSMUSG00000055436
Gene Name serine and arginine-rich splicing factor 11
Synonyms Sfrs11, 2610019N13Rik, 0610009J05Rik
MMRRC Submission 044136-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5944 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 157716552-157742311 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 157728981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069025] [ENSMUST00000072875] [ENSMUST00000121326] [ENSMUST00000126716] [ENSMUST00000137444] [ENSMUST00000198705]
AlphaFold E9Q6E5
Predicted Effect probably benign
Transcript: ENSMUST00000069025
SMART Domains Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 64 88 N/A INTRINSIC
low complexity region 91 114 N/A INTRINSIC
low complexity region 186 264 N/A INTRINSIC
low complexity region 271 310 N/A INTRINSIC
low complexity region 328 335 N/A INTRINSIC
low complexity region 365 374 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072875
SMART Domains Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RRM 27 101 3.13e-7 SMART
low complexity region 117 141 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
low complexity region 239 317 N/A INTRINSIC
low complexity region 327 409 N/A INTRINSIC
low complexity region 428 435 N/A INTRINSIC
low complexity region 465 474 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000089922
Predicted Effect probably benign
Transcript: ENSMUST00000121326
SMART Domains Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 40 59 N/A INTRINSIC
RRM 62 136 3.13e-7 SMART
low complexity region 152 176 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 274 352 N/A INTRINSIC
low complexity region 362 444 N/A INTRINSIC
low complexity region 463 470 N/A INTRINSIC
low complexity region 500 509 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126716
SMART Domains Protein: ENSMUSP00000114370
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RRM 27 101 3.13e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127778
Predicted Effect
SMART Domains Protein: ENSMUSP00000115487
Gene: ENSMUSG00000055436
AA Change: R90Q

DomainStartEndE-ValueType
RRM 7 81 3.13e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152274
SMART Domains Protein: ENSMUSP00000127239
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 64 88 N/A INTRINSIC
low complexity region 91 114 N/A INTRINSIC
low complexity region 186 264 N/A INTRINSIC
low complexity region 274 356 N/A INTRINSIC
low complexity region 375 382 N/A INTRINSIC
low complexity region 412 421 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196034
Predicted Effect probably benign
Transcript: ENSMUST00000137444
SMART Domains Protein: ENSMUSP00000122686
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RRM 27 101 3.13e-7 SMART
low complexity region 117 141 N/A INTRINSIC
low complexity region 144 167 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140491
SMART Domains Protein: ENSMUSP00000118767
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
Blast:RRM 2 42 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000198705
SMART Domains Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 81 175 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G T 5: 114,384,041 (GRCm39) R2190L probably damaging Het
Ankrd17 C T 5: 90,433,702 (GRCm39) R689H probably damaging Het
Apol7b A T 15: 77,307,967 (GRCm39) V176E probably damaging Het
Arsg T C 11: 109,426,137 (GRCm39) F319S probably damaging Het
Bcar3 T A 3: 122,316,932 (GRCm39) D634E probably benign Het
Bend7 T C 2: 4,749,167 (GRCm39) W95R probably damaging Het
Cenpj A G 14: 56,791,115 (GRCm39) probably null Het
Cfap91 G T 16: 38,148,672 (GRCm39) T252N probably damaging Het
Clasrp A T 7: 19,328,431 (GRCm39) Y116N probably damaging Het
Cldn17 T C 16: 88,303,597 (GRCm39) E44G probably damaging Het
Cyfip1 G A 7: 55,521,878 (GRCm39) E61K probably damaging Het
Dcaf13 A C 15: 39,010,072 (GRCm39) M419L probably benign Het
Eml4 A G 17: 83,753,472 (GRCm39) D269G possibly damaging Het
Fap T C 2: 62,372,605 (GRCm39) Y258C probably damaging Het
Fdxr T A 11: 115,160,672 (GRCm39) T288S probably benign Het
Frs3 T C 17: 48,003,233 (GRCm39) probably benign Het
Gm5581 T A 6: 131,145,363 (GRCm39) noncoding transcript Het
Gm7964 A G 7: 83,405,743 (GRCm39) D187G probably benign Het
Gpc5 T C 14: 115,607,250 (GRCm39) V284A probably benign Het
Hspa9 T C 18: 35,082,076 (GRCm39) T177A possibly damaging Het
Ifi202b T A 1: 173,791,365 (GRCm39) M438L probably benign Het
Ighv1-3 T C 12: 114,445,239 (GRCm39) probably benign Het
Krt36 G T 11: 99,996,139 (GRCm39) A95E probably benign Het
Krt9 C T 11: 100,079,265 (GRCm39) S709N unknown Het
Lmntd1 A T 6: 145,373,042 (GRCm39) S164T probably damaging Het
Or14c41 T A 7: 86,234,486 (GRCm39) M1K probably null Het
Or2ag1b A T 7: 106,288,853 (GRCm39) C28* probably null Het
Or52n4b G A 7: 108,144,484 (GRCm39) A249T possibly damaging Het
Or5b94 C T 19: 12,652,283 (GRCm39) T238I probably damaging Het
Or7a41 A T 10: 78,871,223 (GRCm39) M198L probably benign Het
Papola T A 12: 105,778,644 (GRCm39) F341I possibly damaging Het
Phf3 A G 1: 30,859,785 (GRCm39) L914P probably damaging Het
Sec24d T C 3: 123,087,230 (GRCm39) V132A probably benign Het
Serpini1 G A 3: 75,547,606 (GRCm39) D373N probably damaging Het
Sigirr T C 7: 140,671,300 (GRCm39) Y394C probably damaging Het
Slc29a4 G A 5: 142,704,573 (GRCm39) E372K probably damaging Het
Slc7a4 C T 16: 17,392,220 (GRCm39) V405I possibly damaging Het
Spatc1 T C 15: 76,168,138 (GRCm39) L199P probably damaging Het
Srgap3 T C 6: 112,772,775 (GRCm39) M149V possibly damaging Het
Stat3 C T 11: 100,785,931 (GRCm39) A449T probably damaging Het
Stat4 A G 1: 52,113,898 (GRCm39) N203D probably damaging Het
Tanc1 T C 2: 59,667,564 (GRCm39) probably null Het
Trav3-1 T C 14: 52,818,449 (GRCm39) I41T probably benign Het
Usp34 T A 11: 23,313,089 (GRCm39) D525E probably damaging Het
Vars1 T C 17: 35,232,620 (GRCm39) V848A probably damaging Het
Vmn2r101 A T 17: 19,809,769 (GRCm39) D185V probably benign Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Srsf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:Srsf11 APN 3 157,717,672 (GRCm39) unclassified probably benign
IGL01600:Srsf11 APN 3 157,725,079 (GRCm39) splice site probably benign
IGL02724:Srsf11 APN 3 157,722,068 (GRCm39) unclassified probably benign
IGL03147:Srsf11 UTSW 3 157,732,377 (GRCm39) missense probably damaging 1.00
R0195:Srsf11 UTSW 3 157,742,172 (GRCm39) unclassified probably benign
R0578:Srsf11 UTSW 3 157,717,704 (GRCm39) unclassified probably benign
R0580:Srsf11 UTSW 3 157,717,704 (GRCm39) unclassified probably benign
R1075:Srsf11 UTSW 3 157,718,427 (GRCm39) intron probably benign
R1604:Srsf11 UTSW 3 157,724,948 (GRCm39) critical splice donor site probably null
R1797:Srsf11 UTSW 3 157,725,065 (GRCm39) missense possibly damaging 0.92
R1815:Srsf11 UTSW 3 157,722,064 (GRCm39) unclassified probably benign
R1899:Srsf11 UTSW 3 157,737,217 (GRCm39) unclassified probably benign
R2105:Srsf11 UTSW 3 157,724,982 (GRCm39) missense probably damaging 0.99
R4605:Srsf11 UTSW 3 157,728,560 (GRCm39) nonsense probably null
R4655:Srsf11 UTSW 3 157,728,972 (GRCm39) missense probably benign 0.15
R4737:Srsf11 UTSW 3 157,732,369 (GRCm39) nonsense probably null
R5244:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5245:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5379:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5401:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5625:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5763:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5814:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5938:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R5945:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6126:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6175:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6427:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6435:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6436:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6614:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R6616:Srsf11 UTSW 3 157,728,981 (GRCm39) unclassified probably benign
R7615:Srsf11 UTSW 3 157,722,062 (GRCm39) missense unknown
R8787:Srsf11 UTSW 3 157,718,037 (GRCm39) missense unknown
R9352:Srsf11 UTSW 3 157,717,836 (GRCm39) missense unknown
R9547:Srsf11 UTSW 3 157,717,735 (GRCm39) missense unknown
X0017:Srsf11 UTSW 3 157,721,986 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACCACCTGAGTTTGTTGAAAGTAC -3'
(R):5'- AGCCCTACTCTTGATTCCAACAG -3'

Sequencing Primer
(F):5'- GTCAGAATGAAACTTCAATGTGTG -3'
(R):5'- ACTCTTGATTCCAACAGAATATTTCC -3'
Posted On 2017-02-28