Incidental Mutation 'IGL01960:Srsf6'
ID182380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srsf6
Ensembl Gene ENSMUSG00000016921
Gene Nameserine/arginine-rich splicing factor 6
SynonymsSfrs6, 1210001E11Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.746) question?
Stock #IGL01960
Quality Score
Status
Chromosome2
Chromosomal Location162931528-162937121 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 162933754 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 161 (R161H)
Ref Sequence ENSEMBL: ENSMUSP00000119065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]
Predicted Effect probably benign
Transcript: ENSMUST00000017065
SMART Domains Protein: ENSMUSP00000142183
Gene: ENSMUSG00000016921

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126163
SMART Domains Protein: ENSMUSP00000141349
Gene: ENSMUSG00000016921

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130411
AA Change: R161H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: R161H

DomainStartEndE-ValueType
RRM 3 68 2.62e-18 SMART
low complexity region 74 100 N/A INTRINSIC
RRM 111 179 6.97e-14 SMART
low complexity region 184 280 N/A INTRINSIC
low complexity region 291 303 N/A INTRINSIC
low complexity region 313 338 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193611
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. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G A 4: 130,012,384 probably benign Het
Adh7 T C 3: 138,226,282 I219T probably damaging Het
Ankmy1 C A 1: 92,871,663 probably benign Het
Aoc1 A G 6: 48,908,603 I681V probably benign Het
Arfgap3 T C 15: 83,313,557 T333A probably benign Het
Cdc42ep4 A G 11: 113,729,004 V187A probably benign Het
Cyp4f40 G A 17: 32,659,561 G26R probably benign Het
Dnah7b T A 1: 46,124,337 probably benign Het
Dnajb4 T C 3: 152,186,539 E219G probably damaging Het
Dnmt3b A G 2: 153,676,711 K578R possibly damaging Het
Dst A T 1: 34,290,489 D4649V probably damaging Het
Fam20c T C 5: 138,806,320 S391P probably damaging Het
Fbxw10 A T 11: 62,876,756 Y801F probably damaging Het
Frem2 T G 3: 53,522,304 E2775A probably benign Het
Frmd4b A T 6: 97,295,780 S830T possibly damaging Het
Gatad2a T G 8: 69,909,948 S581R possibly damaging Het
Gpcpd1 C T 2: 132,539,898 probably null Het
Igsf10 A G 3: 59,318,737 L2505P probably benign Het
Igsf9b A G 9: 27,328,606 D649G possibly damaging Het
Impact T C 18: 12,974,758 C28R probably benign Het
Ino80d G T 1: 63,058,147 Q863K probably damaging Het
Iqsec1 A C 6: 90,676,780 M675R probably damaging Het
Kcng3 C T 17: 83,587,850 V396I probably damaging Het
Klhl18 A T 9: 110,450,746 D60E probably benign Het
Krtap7-1 C T 16: 89,508,268 probably benign Het
Mal2 T A 15: 54,598,545 Y145* probably null Het
Mcpt8 A T 14: 56,082,407 probably null Het
Mdn1 A G 4: 32,758,393 D4810G probably benign Het
Med24 T C 11: 98,707,542 I766V probably benign Het
Mga G A 2: 119,938,657 V1477M probably damaging Het
Mybph T A 1: 134,193,925 V112E probably benign Het
Nmur2 A T 11: 56,040,511 S125T probably damaging Het
Olfr322 T C 11: 58,665,865 V102A probably benign Het
Olfr805 A G 10: 129,722,887 I219T probably damaging Het
Olfr907 A T 9: 38,498,707 I13F probably damaging Het
Otop3 A G 11: 115,340,969 N220S probably damaging Het
Pacsin1 T G 17: 27,704,835 probably null Het
Pcsk1 A G 13: 75,093,167 R89G possibly damaging Het
Pde2a A T 7: 101,504,740 E509V probably benign Het
Pex1 T C 5: 3,627,588 probably benign Het
Ppp4r4 T G 12: 103,581,494 probably benign Het
Pygb T A 2: 150,813,483 N251K probably benign Het
Rsf1 C T 7: 97,661,575 T504I probably benign Het
Slc5a11 A T 7: 123,269,940 T584S probably benign Het
Smad2 G A 18: 76,262,484 probably benign Het
Tbx3 T A 5: 119,682,643 S573T probably benign Het
Tecpr1 C T 5: 144,216,919 R172Q probably benign Het
Ttn T A 2: 76,788,900 probably null Het
Ubr2 T C 17: 46,973,967 M542V probably benign Het
Unc80 T C 1: 66,608,500 probably benign Het
Vmn1r222 T A 13: 23,232,145 K299N probably benign Het
Wwp1 A T 4: 19,662,115 probably benign Het
Zbtb46 T A 2: 181,424,135 H74L possibly damaging Het
Zfp106 A G 2: 120,539,322 L73S probably benign Het
Zfp106 A T 2: 120,524,043 L1416I probably damaging Het
Zfp667 G A 7: 6,305,337 G335R probably benign Het
Other mutations in Srsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Srsf6 APN 2 162931707 missense probably damaging 1.00
R1292:Srsf6 UTSW 2 162934483 unclassified probably benign
R1789:Srsf6 UTSW 2 162934488 unclassified probably benign
R1936:Srsf6 UTSW 2 162934483 unclassified probably benign
R1937:Srsf6 UTSW 2 162934483 unclassified probably benign
R1939:Srsf6 UTSW 2 162934483 unclassified probably benign
R1940:Srsf6 UTSW 2 162934483 unclassified probably benign
R2225:Srsf6 UTSW 2 162931699 missense probably damaging 1.00
R2226:Srsf6 UTSW 2 162931699 missense probably damaging 1.00
R2227:Srsf6 UTSW 2 162931699 missense probably damaging 1.00
R4026:Srsf6 UTSW 2 162934291 unclassified probably benign
R4290:Srsf6 UTSW 2 162934716 unclassified probably benign
R4292:Srsf6 UTSW 2 162934716 unclassified probably benign
R4293:Srsf6 UTSW 2 162934716 unclassified probably benign
R4294:Srsf6 UTSW 2 162934716 unclassified probably benign
R4295:Srsf6 UTSW 2 162934716 unclassified probably benign
R4592:Srsf6 UTSW 2 162931723 missense probably damaging 0.99
R4613:Srsf6 UTSW 2 162933709 missense probably benign 0.45
R4657:Srsf6 UTSW 2 162933427 missense probably benign 0.01
R7378:Srsf6 UTSW 2 162934569 missense unknown
R7446:Srsf6 UTSW 2 162934716 missense unknown
R7578:Srsf6 UTSW 2 162932862 missense probably benign 0.00
R7730:Srsf6 UTSW 2 162931723 missense probably damaging 0.99
X0020:Srsf6 UTSW 2 162933498 missense probably damaging 1.00
Posted On2014-05-07