Incidental Mutation 'IGL01598:Srsf11'
ID 91729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf11
Ensembl Gene ENSMUSG00000055436
Gene Name serine and arginine-rich splicing factor 11
Synonyms Sfrs11, 2610019N13Rik, 0610009J05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01598
Quality Score
Status
Chromosome 3
Chromosomal Location 157716552-157742311 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 157717672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000069025] [ENSMUST00000072875] [ENSMUST00000121326] [ENSMUST00000199727] [ENSMUST00000198705]
AlphaFold E9Q6E5
Predicted Effect probably benign
Transcript: ENSMUST00000040787
SMART Domains Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988

DomainStartEndE-ValueType
low complexity region 27 52 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
Blast:ANK 108 139 8e-10 BLAST
ANK 143 172 2.66e-5 SMART
ANK 176 205 1.97e1 SMART
Pfam:GPCR_chapero_1 259 533 2.2e-81 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000069025
AA Change: E493K
SMART Domains Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
AA Change: E493K

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 unknown
Transcript: ENSMUST00000072875
AA Change: E469K
SMART Domains Protein: ENSMUSP00000072651
Gene: ENSMUSG00000055436
AA Change: E469K

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 unknown
Transcript: ENSMUST00000121326
AA Change: E504K
SMART Domains Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436
AA Change: E504K

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 noncoding transcript
Transcript: ENSMUST00000126377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145267
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: ENSMUST00000156303
Predicted Effect probably benign
Transcript: ENSMUST00000199727
SMART Domains Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988

DomainStartEndE-ValueType
low complexity region 27 52 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
Blast:ANK 108 139 2e-9 BLAST
ANK 143 172 1.7e-7 SMART
ANK 176 205 1.3e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198705
SMART Domains Protein: ENSMUSP00000142759
Gene: ENSMUSG00000055436

DomainStartEndE-ValueType
low complexity region 81 175 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,275,817 (GRCm39) noncoding transcript Het
Apc2 T A 10: 80,148,882 (GRCm39) L1283Q probably damaging Het
Apol6 G A 15: 76,934,916 (GRCm39) A62T probably damaging Het
AU018091 A T 7: 3,212,110 (GRCm39) I204N possibly damaging Het
B4galnt4 G T 7: 140,650,428 (GRCm39) R765L probably benign Het
Brca1 T C 11: 101,415,156 (GRCm39) T993A probably benign Het
Cadps C T 14: 12,522,202 (GRCm38) probably null Het
Ccdc177 A G 12: 80,805,519 (GRCm39) S252P unknown Het
Cdc73 A G 1: 143,575,017 (GRCm39) S59P probably damaging Het
Cep63 G T 9: 102,467,657 (GRCm39) Q570K possibly damaging Het
Ces1c A T 8: 93,845,041 (GRCm39) I120K probably benign Het
Cpeb1 T C 7: 81,011,549 (GRCm39) M131V probably benign Het
Dync1h1 G A 12: 110,624,562 (GRCm39) V3701I probably damaging Het
Fxr1 T C 3: 34,118,381 (GRCm39) S535P possibly damaging Het
Gldc A T 19: 30,111,156 (GRCm39) V540D probably damaging Het
Iqcf6 A G 9: 106,504,707 (GRCm39) T124A probably benign Het
Itih4 A G 14: 30,609,774 (GRCm39) I35V possibly damaging Het
Kmt2c T C 5: 25,478,664 (GRCm39) *1525W probably null Het
Kmt2c A T 5: 25,559,769 (GRCm39) V963E probably damaging Het
Lmnb2 T C 10: 80,742,999 (GRCm39) S202G probably benign Het
Med23 T G 10: 24,779,696 (GRCm39) S924R probably benign Het
Or5b102 T C 19: 13,041,513 (GRCm39) V246A probably damaging Het
Pcif1 T C 2: 164,728,531 (GRCm39) F263L possibly damaging Het
Pon2 A T 6: 5,272,331 (GRCm39) L163H probably damaging Het
Scn1a C T 2: 66,132,829 (GRCm39) V165M possibly damaging Het
Sema6d C A 2: 124,507,018 (GRCm39) P961Q probably damaging Het
Snx27 A G 3: 94,469,150 (GRCm39) Y64H probably damaging Het
Taok1 A G 11: 77,462,510 (GRCm39) V193A probably damaging Het
Tut4 A G 4: 108,408,017 (GRCm39) probably benign Het
Vps13d T C 4: 144,743,471 (GRCm39) T4137A probably benign Het
Zbtb26 T C 2: 37,326,283 (GRCm39) Y251C probably damaging Het
Other mutations in Srsf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09