Incidental Mutation 'R5379:Srsf11'
ID 425731
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 042954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5379 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,096,532 (GRCm39) L640Q probably damaging Het
Afap1l1 T C 18: 61,891,721 (GRCm39) E32G probably damaging Het
Atp1a1 T A 3: 101,489,411 (GRCm39) M734L probably benign Het
B4galt6 T C 18: 20,822,296 (GRCm39) D294G probably damaging Het
Baz1a T G 12: 54,941,133 (GRCm39) D1539A probably damaging Het
Bmper T A 9: 23,208,520 (GRCm39) S141T probably benign Het
Camkv T C 9: 107,822,545 (GRCm39) V20A probably damaging Het
Chst8 A G 7: 34,375,279 (GRCm39) Y187H probably damaging Het
Coro1c A G 5: 113,983,443 (GRCm39) Y362H probably damaging Het
Csmd3 C A 15: 47,499,846 (GRCm39) G3008* probably null Het
Dnah17 T C 11: 118,008,029 (GRCm39) probably benign Het
Dnajb1 C T 8: 84,335,135 (GRCm39) R59C possibly damaging Het
Dpf1 A G 7: 29,003,533 (GRCm39) K10E probably benign Het
Eif5 T C 12: 111,509,989 (GRCm39) L311P probably damaging Het
Eqtn A G 4: 94,795,825 (GRCm39) F251S probably damaging Het
Fancg A G 4: 43,002,998 (GRCm39) S620P probably benign Het
Farp1 T C 14: 121,494,169 (GRCm39) V550A possibly damaging Het
Fat2 T C 11: 55,194,767 (GRCm39) T1091A probably damaging Het
Fbxo33 A G 12: 59,266,246 (GRCm39) probably benign Het
Fndc5 A T 4: 129,035,887 (GRCm39) I175F probably damaging Het
Gtf2ird2 G C 5: 134,246,310 (GRCm39) R856P probably benign Het
Hc A T 2: 34,881,077 (GRCm39) F1481I probably damaging Het
Helz2 T A 2: 180,876,862 (GRCm39) T1211S probably benign Het
Hmcn2 G A 2: 31,299,023 (GRCm39) V2790M probably damaging Het
Ighv1-82 T C 12: 115,916,297 (GRCm39) Y71C probably damaging Het
Itgam A G 7: 127,711,560 (GRCm39) D725G probably damaging Het
Kif9 T C 9: 110,350,371 (GRCm39) V754A probably benign Het
Larp4b C A 13: 9,186,945 (GRCm39) T91K probably benign Het
Mki67 T C 7: 135,299,190 (GRCm39) E1948G possibly damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrgprb13 A T 7: 47,961,496 (GRCm39) noncoding transcript Het
Nlrc4 A T 17: 74,755,078 (GRCm39) L46* probably null Het
Or13c7c A G 4: 43,836,010 (GRCm39) I160T probably benign Het
Or7g21 A T 9: 19,032,373 (GRCm39) T38S probably damaging Het
Or8d1b T C 9: 38,887,151 (GRCm39) Y60H possibly damaging Het
Orm1 A G 4: 63,264,230 (GRCm39) probably null Het
Parva A T 7: 112,178,927 (GRCm39) H311L probably benign Het
Pramel25 A G 4: 143,521,493 (GRCm39) I370V probably benign Het
Proca1 C A 11: 78,096,092 (GRCm39) S154R probably damaging Het
R3hdm2 T C 10: 127,307,771 (GRCm39) V344A probably damaging Het
Rabep1 A T 11: 70,799,247 (GRCm39) K293N probably damaging Het
Ranbp6 A G 19: 29,789,083 (GRCm39) V423A probably damaging Het
Rnf20 T A 4: 49,652,639 (GRCm39) Y711N possibly damaging Het
Sf3b1 A T 1: 55,042,309 (GRCm39) M498K possibly damaging Het
Sin3a T C 9: 57,018,272 (GRCm39) M897T probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srbd1 A C 17: 86,308,964 (GRCm39) I738S possibly damaging Het
Svep1 A G 4: 58,072,991 (GRCm39) V2106A possibly damaging Het
Tasor2 T C 13: 3,638,496 (GRCm39) R412G probably benign Het
Tex47 G A 5: 7,354,843 (GRCm39) R8Q probably null Het
Trpc7 A G 13: 56,952,363 (GRCm39) Y548H probably damaging Het
Vmn1r170 A T 7: 23,306,054 (GRCm39) H152L possibly damaging Het
Zfp184 A G 13: 22,144,051 (GRCm39) I586V probably damaging Het
Zfp454 T C 11: 50,774,629 (GRCm39) T15A 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
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
R5944: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'- ACACCACCTGAGTTTGTTGAAAG -3'
(R):5'- AAGCCCTACTCTTGATTCCAAC -3'

Sequencing Primer
(F):5'- GTCAGAATGAAACTTCAATGTGTG -3'
(R):5'- ACTCTTGATTCCAACAGAATATTTCC -3'
Posted On 2016-08-04