Incidental Mutation 'R7908:Srsf6'
ID 610256
Institutional Source Beutler Lab
Gene Symbol Srsf6
Ensembl Gene ENSMUSG00000016921
Gene Name serine and arginine-rich splicing factor 6
Synonyms 1210001E11Rik, Sfrs6
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R7908 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 162773448-162779041 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 162775760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 190 (S190P)
Ref Sequence ENSEMBL: ENSMUSP00000119065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017065] [ENSMUST00000126163] [ENSMUST00000130411]
AlphaFold Q3TWW8
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 unknown
Transcript: ENSMUST00000130411
AA Change: S190P
SMART Domains Protein: ENSMUSP00000119065
Gene: ENSMUSG00000016921
AA Change: S190P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,112,577 (GRCm39) F69L probably benign Het
Acsf3 A G 8: 123,512,562 (GRCm39) M328V probably damaging Het
Adam10 T G 9: 70,669,046 (GRCm39) V454G possibly damaging Het
Adamts15 T C 9: 30,813,522 (GRCm39) D881G probably benign Het
Adamtsl1 T C 4: 86,274,676 (GRCm39) V1244A probably benign Het
Ankfn1 G A 11: 89,296,360 (GRCm39) P123L probably damaging Het
Aox1 T C 1: 58,145,227 (GRCm39) I1331T possibly damaging Het
Atg14 T A 14: 47,806,050 (GRCm39) probably benign Het
Bmal1 A T 7: 112,912,680 (GRCm39) I579L probably benign Het
Btnl4 A G 17: 34,692,161 (GRCm39) M147T possibly damaging Het
Camk1g T C 1: 193,042,082 (GRCm39) K56E probably damaging Het
Capn7 T C 14: 31,088,202 (GRCm39) probably null Het
Cbln1 T A 8: 88,198,724 (GRCm39) T49S probably benign Het
Cc2d2a T C 5: 43,864,188 (GRCm39) V763A probably benign Het
Cdc40 A G 10: 40,724,042 (GRCm39) Y249H probably damaging Het
Cfap61 T A 2: 145,944,019 (GRCm39) L762H probably damaging Het
Cfap68 T A 9: 50,675,248 (GRCm39) T153S possibly damaging Het
Cfap73 T C 5: 120,768,123 (GRCm39) T212A probably benign Het
Cfi A G 3: 129,642,233 (GRCm39) E29G probably benign Het
Chmp6 A T 11: 119,804,656 (GRCm39) probably benign Het
Clec14a T C 12: 58,314,465 (GRCm39) T386A possibly damaging Het
Coq6 T A 12: 84,417,940 (GRCm39) L268H probably damaging Het
Cpt1a T C 19: 3,412,202 (GRCm39) S225P probably benign Het
Dhx58 C A 11: 100,586,130 (GRCm39) L630F probably damaging Het
Dlg2 T A 7: 91,549,981 (GRCm39) V158E probably damaging Het
Fcgbpl1 A T 7: 27,846,921 (GRCm39) Y1168F probably benign Het
Foxd3 A G 4: 99,545,576 (GRCm39) T239A probably benign Het
Galnt6 T C 15: 100,601,242 (GRCm39) T346A probably damaging Het
Guca1b C G 17: 47,702,102 (GRCm39) T185S unknown Het
H2-M5 T C 17: 37,298,571 (GRCm39) T292A probably benign Het
Hlx T C 1: 184,459,773 (GRCm39) H455R probably benign Het
Hydin A G 8: 111,237,499 (GRCm39) Y1924C probably benign Het
Ighg2b C T 12: 113,270,074 (GRCm39) V315M Het
Ildr2 A G 1: 166,135,369 (GRCm39) K374E probably damaging Het
Jmjd1c T C 10: 67,061,621 (GRCm39) S1144P probably benign Het
Kcnj8 T C 6: 142,511,755 (GRCm39) D284G probably benign Het
Kri1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTCCTCCTCCTC 9: 21,192,352 (GRCm39) probably benign Het
Lingo4 A G 3: 94,309,541 (GRCm39) T160A probably benign Het
Lmod3 G T 6: 97,225,434 (GRCm39) A129E probably benign Het
Lrrk2 T C 15: 91,610,355 (GRCm39) C696R probably damaging Het
Mc2r A G 18: 68,541,036 (GRCm39) F86L probably benign Het
Mppe1 T G 18: 67,362,055 (GRCm39) K170T probably benign Het
Mtcl1 A G 17: 66,678,325 (GRCm39) I667T possibly damaging Het
Mtnr1a A T 8: 45,540,863 (GRCm39) I275F probably benign Het
Myh2 A G 11: 67,088,197 (GRCm39) I1938V probably benign Het
Npsr1 A T 9: 24,201,096 (GRCm39) E160V probably damaging Het
Or13c7b T A 4: 43,821,086 (GRCm39) I92F probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or6c3 T A 10: 129,308,867 (GRCm39) I102N probably damaging Het
Ovch2 T A 7: 107,388,326 (GRCm39) Y418F probably damaging Het
Pak5 A G 2: 135,958,479 (GRCm39) L203S probably benign Het
Pcdh15 A T 10: 74,479,414 (GRCm39) E508D probably benign Het
Prl7a1 T C 13: 27,826,433 (GRCm39) M1V probably null Het
Prorp A T 12: 55,426,250 (GRCm39) K533N possibly damaging Het
Prpsap2 G T 11: 61,647,098 (GRCm39) N14K possibly damaging Het
Rad54b T A 4: 11,595,868 (GRCm39) V215E probably null Het
Ryr2 G A 13: 11,807,634 (GRCm39) T845I probably benign Het
Scgb2b3 G A 7: 31,061,439 (GRCm39) T20I probably damaging Het
Serpina1b T C 12: 103,694,566 (GRCm39) I393V possibly damaging Het
Slc13a5 T C 11: 72,149,890 (GRCm39) M207V probably benign Het
Slc49a3 T C 5: 108,592,363 (GRCm39) I276V probably benign Het
Smg1 A T 7: 117,785,357 (GRCm39) L843M unknown Het
Sp100 T C 1: 85,635,788 (GRCm39) V531A possibly damaging Het
Stil A G 4: 114,889,896 (GRCm39) K795E possibly damaging Het
Sugp2 A G 8: 70,704,577 (GRCm39) R705G probably benign Het
Tnfrsf11a T A 1: 105,737,099 (GRCm39) C69S probably damaging Het
Trim30a A T 7: 104,070,656 (GRCm39) N252K probably benign Het
Tshz1 T A 18: 84,032,732 (GRCm39) K559* probably null Het
Ttbk1 C T 17: 46,789,864 (GRCm39) R133H probably damaging Het
Vmn1r1 T C 1: 181,984,915 (GRCm39) Y250C probably benign Het
Vmn2r12 A G 5: 109,234,307 (GRCm39) L635P probably damaging Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vwa5b1 A T 4: 138,296,481 (GRCm39) L1182* probably null Het
Washc2 A G 6: 116,225,106 (GRCm39) D818G probably benign Het
Xylb T G 9: 119,210,611 (GRCm39) S365A probably benign Het
Zcchc8 T C 5: 123,858,783 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,345,986 (GRCm39) I1455T possibly damaging Het
Other mutations in Srsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Srsf6 APN 2 162,773,627 (GRCm39) missense probably damaging 1.00
IGL01960:Srsf6 APN 2 162,775,674 (GRCm39) missense probably damaging 1.00
R1292:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1789:Srsf6 UTSW 2 162,776,408 (GRCm39) unclassified probably benign
R1936:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1937:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1939:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R1940:Srsf6 UTSW 2 162,776,403 (GRCm39) unclassified probably benign
R2225:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R2226:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R2227:Srsf6 UTSW 2 162,773,619 (GRCm39) missense probably damaging 1.00
R4026:Srsf6 UTSW 2 162,776,211 (GRCm39) unclassified probably benign
R4290:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4292:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4293:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4294:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4295:Srsf6 UTSW 2 162,776,636 (GRCm39) unclassified probably benign
R4592:Srsf6 UTSW 2 162,773,643 (GRCm39) missense probably damaging 0.99
R4613:Srsf6 UTSW 2 162,775,629 (GRCm39) missense probably benign 0.45
R4657:Srsf6 UTSW 2 162,775,347 (GRCm39) missense probably benign 0.01
R7378:Srsf6 UTSW 2 162,776,489 (GRCm39) missense unknown
R7446:Srsf6 UTSW 2 162,776,636 (GRCm39) missense unknown
R7578:Srsf6 UTSW 2 162,774,782 (GRCm39) missense probably benign 0.00
R7730:Srsf6 UTSW 2 162,773,643 (GRCm39) missense probably damaging 0.99
R9498:Srsf6 UTSW 2 162,774,009 (GRCm39) missense probably benign 0.07
X0020:Srsf6 UTSW 2 162,775,418 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTAGGATTTCATGCGGCAAG -3'
(R):5'- AGACCTTCTTCTAGACCGTGATC -3'

Sequencing Primer
(F):5'- CAAGCAGGAGAAGTGACTTATGC -3'
(R):5'- TGAAGGTCCTGAGTTCAAATCCCAG -3'
Posted On 2019-12-20