Incidental Mutation 'R6411:Rsrc1'
ID 514592
Institutional Source Beutler Lab
Gene Symbol Rsrc1
Ensembl Gene ENSMUSG00000034544
Gene Name arginine/serine-rich coiled-coil 1
Synonyms SRrp53, 1200013F24Rik
MMRRC Submission 044384-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R6411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 66888723-67265729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66901982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 44 (P44L)
Ref Sequence ENSEMBL: ENSMUSP00000125547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000160504] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162362] [ENSMUST00000162693]
AlphaFold Q9DBU6
Predicted Effect unknown
Transcript: ENSMUST00000046542
AA Change: P44L
SMART Domains Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 116 N/A INTRINSIC
coiled coil region 138 191 N/A INTRINSIC
low complexity region 223 236 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000065047
AA Change: P44L
SMART Domains Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 109 N/A INTRINSIC
coiled coil region 122 175 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000065074
AA Change: P44L
SMART Domains Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 95 N/A INTRINSIC
low complexity region 98 159 N/A INTRINSIC
coiled coil region 180 233 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000160504
AA Change: P44L
SMART Domains Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 59 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161726
AA Change: P44L
SMART Domains Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 95 N/A INTRINSIC
low complexity region 98 159 N/A INTRINSIC
coiled coil region 180 233 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162036
AA Change: P44L
SMART Domains Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 95 N/A INTRINSIC
low complexity region 98 159 N/A INTRINSIC
coiled coil region 180 233 N/A INTRINSIC
low complexity region 265 278 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162362
AA Change: P44L
SMART Domains Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 59 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000162693
AA Change: P44L
SMART Domains Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: P44L

DomainStartEndE-ValueType
low complexity region 3 88 N/A INTRINSIC
low complexity region 96 157 N/A INTRINSIC
coiled coil region 178 231 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182708
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn7 A G 14: 31,062,053 (GRCm39) E55G probably benign Het
Carmil2 G T 8: 106,423,658 (GRCm39) D1211Y probably damaging Het
Carns1 G T 19: 4,216,463 (GRCm39) A573E probably damaging Het
Dennd4a A G 9: 64,779,181 (GRCm39) R555G probably benign Het
Guf1 T C 5: 69,717,854 (GRCm39) I204T possibly damaging Het
Hgsnat C T 8: 26,436,303 (GRCm39) V584M possibly damaging Het
Izumo2 A T 7: 44,369,184 (GRCm39) Q186L probably benign Het
Lmtk2 A T 5: 144,111,404 (GRCm39) Q708L probably damaging Het
Mitf T C 6: 97,987,433 (GRCm39) probably null Het
Myo9b T A 8: 71,775,599 (GRCm39) Y340* probably null Het
Naip5 A G 13: 100,359,913 (GRCm39) I441T probably benign Het
Nbea A C 3: 55,712,778 (GRCm39) S2100A probably benign Het
Or10ag60 G T 2: 87,438,317 (GRCm39) C195F probably damaging Het
Or2t47 T A 11: 58,442,483 (GRCm39) Y194F probably damaging Het
Or5a3 G A 19: 12,400,350 (GRCm39) V226I probably benign Het
Or6b1 A G 6: 42,815,654 (GRCm39) T280A possibly damaging Het
Oxnad1 C G 14: 31,813,609 (GRCm39) H3Q possibly damaging Het
Rab8b A T 9: 66,761,948 (GRCm39) probably null Het
Rfc4 T C 16: 22,932,823 (GRCm39) *371W probably null Het
Safb2 A G 17: 56,878,289 (GRCm39) S24P probably benign Het
Sele G A 1: 163,876,984 (GRCm39) V87I probably benign Het
Slc8b1 T A 5: 120,659,191 (GRCm39) W212R probably damaging Het
Vmn1r88 A T 7: 12,911,970 (GRCm39) I109F probably damaging Het
Zfp758 A T 17: 22,594,075 (GRCm39) D155V possibly damaging Het
Other mutations in Rsrc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Rsrc1 APN 3 66,989,933 (GRCm39) intron probably benign
IGL03180:Rsrc1 APN 3 66,989,876 (GRCm39) intron probably benign
R0200:Rsrc1 UTSW 3 67,088,194 (GRCm39) missense probably damaging 0.99
R0463:Rsrc1 UTSW 3 67,088,194 (GRCm39) missense probably damaging 0.99
R1175:Rsrc1 UTSW 3 67,263,551 (GRCm39) splice site probably benign
R1293:Rsrc1 UTSW 3 67,263,612 (GRCm39) missense probably damaging 1.00
R1677:Rsrc1 UTSW 3 67,262,808 (GRCm39) missense probably damaging 0.97
R1981:Rsrc1 UTSW 3 67,257,338 (GRCm39) missense probably benign 0.18
R2039:Rsrc1 UTSW 3 66,901,951 (GRCm39) missense unknown
R4222:Rsrc1 UTSW 3 66,901,900 (GRCm39) missense unknown
R4624:Rsrc1 UTSW 3 67,257,311 (GRCm39) missense probably damaging 1.00
R4852:Rsrc1 UTSW 3 67,262,935 (GRCm39) missense probably damaging 1.00
R6102:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6103:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6104:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6127:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6129:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6153:Rsrc1 UTSW 3 67,262,895 (GRCm39) missense probably benign 0.33
R6409:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6410:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6412:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6422:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6424:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6442:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6487:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6899:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6910:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6911:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6912:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6916:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6917:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6930:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6931:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6994:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6995:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R6997:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R7010:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R7015:Rsrc1 UTSW 3 66,901,982 (GRCm39) missense unknown
R7048:Rsrc1 UTSW 3 67,088,164 (GRCm39) missense probably damaging 0.99
R7078:Rsrc1 UTSW 3 66,901,987 (GRCm39) missense unknown
R9301:Rsrc1 UTSW 3 67,197,680 (GRCm39) missense probably damaging 1.00
R9683:Rsrc1 UTSW 3 67,257,328 (GRCm39) missense probably damaging 0.97
Z1176:Rsrc1 UTSW 3 67,257,315 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGCCAAGCACATGTTAGTT -3'
(R):5'- CTTTTGGGAGAAAGGTTGCAAAG -3'

Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTGCAAAGGTAGAGGACAGAGAC -3'
Posted On 2018-05-04