Incidental Mutation 'R6616:Srsf11'
ID 543511
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 044739-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6616 (G1)
Quality Score 225.009
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: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,603,509 (GRCm39) H567L probably damaging Het
Adck1 T A 12: 88,427,958 (GRCm39) M525K unknown Het
Alpi T C 1: 87,028,836 (GRCm39) I74V possibly damaging Het
Ccdc168 C A 1: 44,100,634 (GRCm39) V155L possibly damaging Het
Creb5 A C 6: 53,662,295 (GRCm39) Q197H possibly damaging Het
Cyp2b13 A G 7: 25,785,306 (GRCm39) K225R probably benign Het
Dock1 G A 7: 134,710,221 (GRCm39) E1143K possibly damaging Het
Eef2kmt T A 16: 5,065,346 (GRCm39) D287V probably damaging Het
Eif2ak4 T A 2: 118,285,326 (GRCm39) Y1046* probably null Het
Fbxw10 T A 11: 62,743,850 (GRCm39) M252K probably benign Het
Fnip2 A C 3: 79,388,189 (GRCm39) H847Q probably benign Het
Frmd3 A T 4: 74,105,725 (GRCm39) D457V probably damaging Het
Gm13941 T G 2: 110,931,520 (GRCm39) E37D unknown Het
Grin1 T A 2: 25,182,122 (GRCm39) I870F possibly damaging Het
Grin2b A C 6: 135,709,549 (GRCm39) D1332E probably benign Het
Gtpbp4 G A 13: 9,039,141 (GRCm39) T201I possibly damaging Het
Heatr4 A G 12: 84,026,904 (GRCm39) C118R probably benign Het
Hltf T A 3: 20,163,651 (GRCm39) probably null Het
Hmcn1 C T 1: 150,599,008 (GRCm39) probably null Het
Hpd A T 5: 123,310,123 (GRCm39) L367Q probably damaging Het
Htr1b A G 9: 81,514,487 (GRCm39) I40T probably benign Het
Il16 A G 7: 83,295,684 (GRCm39) S464P probably benign Het
Lrp1b T A 2: 40,589,643 (GRCm39) D75V unknown Het
Map3k4 A T 17: 12,490,231 (GRCm39) L400Q probably damaging Het
Mcts2 T A 2: 152,529,582 (GRCm39) I131N possibly damaging Het
Mroh2b A C 15: 4,982,764 (GRCm39) I1528L probably benign Het
Muc4 A C 16: 32,602,378 (GRCm39) D3467A possibly damaging Het
Mypn A T 10: 63,005,091 (GRCm39) C339S probably damaging Het
Ncoa5 A T 2: 164,852,483 (GRCm39) Y130* probably null Het
Or11g27 T A 14: 50,771,364 (GRCm39) I165N probably benign Het
Or2y11 T A 11: 49,442,868 (GRCm39) V98E probably damaging Het
Pcdha4 A G 18: 37,086,953 (GRCm39) T379A probably benign Het
Pkp4 C G 2: 59,180,896 (GRCm39) Y720* probably null Het
Prl5a1 C T 13: 28,333,839 (GRCm39) T114I probably benign Het
Rnd3 A G 2: 51,024,169 (GRCm39) S137P probably damaging Het
Rtel1 G A 2: 180,994,579 (GRCm39) E680K possibly damaging Het
Sbsn T A 7: 30,452,704 (GRCm39) V573D possibly damaging Het
Scaf8 A T 17: 3,218,330 (GRCm39) L233F unknown Het
Sec23a A T 12: 59,043,941 (GRCm39) I241K possibly damaging Het
Secisbp2l A T 2: 125,610,146 (GRCm39) S258T probably damaging Het
Skint4 A G 4: 111,975,427 (GRCm39) H121R possibly damaging Het
Sptbn1 T A 11: 30,074,030 (GRCm39) E1346D probably benign Het
Stpg4 A G 17: 87,730,124 (GRCm39) Y74H probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmc4 A G 7: 3,674,057 (GRCm39) V374A possibly damaging Het
Unc45b G A 11: 82,802,645 (GRCm39) R47Q probably damaging Het
Xirp1 A G 9: 119,848,080 (GRCm39) S268P probably damaging Het
Zfp990 A T 4: 145,263,715 (GRCm39) I238L probably benign Het
Zswim5 A G 4: 116,843,938 (GRCm39) D992G possibly 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
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
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'- AGCCCTACTCTTGATTCCAACAG -3'

Sequencing Primer
(F):5'- GTCAGAATGAAACTTCAATGTGTG -3'
(R):5'- ACTCTTGATTCCAACAGAATATTTCC -3'
Posted On 2019-02-13