Incidental Mutation 'R1677:Rsrc1'
ID 188158
Institutional Source Beutler Lab
Gene Symbol Rsrc1
Ensembl Gene ENSMUSG00000034544
Gene Name arginine/serine-rich coiled-coil 1
Synonyms SRrp53, 1200013F24Rik
MMRRC Submission 039713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R1677 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 66888723-67265729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67262808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 254 (A254E)
Ref Sequence ENSEMBL: ENSMUSP00000125468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162693]
AlphaFold Q9DBU6
Predicted Effect possibly damaging
Transcript: ENSMUST00000046542
AA Change: A212E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: A212E

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 probably benign
Transcript: ENSMUST00000065047
SMART Domains Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544

DomainStartEndE-ValueType
low complexity region 3 109 N/A INTRINSIC
coiled coil region 122 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065074
AA Change: A254E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: A254E

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 probably damaging
Transcript: ENSMUST00000161726
AA Change: A254E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: A254E

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 probably damaging
Transcript: ENSMUST00000162036
AA Change: A254E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: A254E

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 probably benign
Transcript: ENSMUST00000162693
SMART Domains Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (95/95)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
4931406C07Rik T C 9: 15,212,660 (GRCm39) probably null Het
A430005L14Rik G A 4: 154,045,357 (GRCm39) V129M probably damaging Het
Actg2 T C 6: 83,499,801 (GRCm39) T150A possibly damaging Het
Actn1 A T 12: 80,306,806 (GRCm39) D20E probably benign Het
Alcam C T 16: 52,091,136 (GRCm39) E461K probably damaging Het
Anapc1 G A 2: 128,518,128 (GRCm39) P242L probably benign Het
Ankrd49 A T 9: 14,692,674 (GRCm39) D163E probably benign Het
Atp8b5 G A 4: 43,372,903 (GRCm39) R1149Q possibly damaging Het
Cacnb3 G T 15: 98,540,455 (GRCm39) V328F probably damaging Het
Camk4 T C 18: 33,309,275 (GRCm39) I226T probably damaging Het
Ccdc148 T C 2: 58,892,176 (GRCm39) D172G probably damaging Het
Cdh12 A G 15: 21,520,491 (GRCm39) I319V probably damaging Het
Cenpc1 T C 5: 86,209,857 (GRCm39) probably benign Het
Cfap69 A C 5: 5,632,457 (GRCm39) N15K probably damaging Het
Ckap2l A C 2: 129,127,087 (GRCm39) S364A possibly damaging Het
Clic6 G A 16: 92,324,972 (GRCm39) G36R probably damaging Het
Col6a3 T C 1: 90,749,583 (GRCm39) Y417C probably benign Het
Cstf3 T A 2: 104,494,623 (GRCm39) probably benign Het
Cyp4f39 G A 17: 32,711,304 (GRCm39) A484T probably benign Het
Dnah3 T C 7: 119,527,963 (GRCm39) N3829D probably damaging Het
Dntt C A 19: 41,017,923 (GRCm39) P16T probably benign Het
Dym T A 18: 75,258,583 (GRCm39) I447N probably damaging Het
Elmo1 T C 13: 20,773,841 (GRCm39) V617A probably benign Het
Elovl7 G A 13: 108,419,160 (GRCm39) G264D probably damaging Het
Epha7 T A 4: 28,947,571 (GRCm39) Y610* probably null Het
Fn1 T C 1: 71,636,814 (GRCm39) I178V probably benign Het
Fndc9 T C 11: 46,129,152 (GRCm39) Y224H probably benign Het
Gad1 T C 2: 70,404,521 (GRCm39) V137A probably damaging Het
Gapvd1 A G 2: 34,590,773 (GRCm39) probably null Het
Gbp11 C T 5: 105,475,277 (GRCm39) C357Y probably damaging Het
Gcc1 G A 6: 28,419,163 (GRCm39) A390V probably benign Het
Gm6811 A G 17: 21,314,185 (GRCm39) noncoding transcript Het
Htt A T 5: 34,985,918 (GRCm39) D1063V probably damaging Het
Igfn1 C T 1: 135,898,839 (GRCm39) A576T probably damaging Het
Il12rb2 T C 6: 67,280,485 (GRCm39) Y240C probably damaging Het
Itga3 T C 11: 94,946,585 (GRCm39) D747G probably damaging Het
Kcnip2 A C 19: 45,782,979 (GRCm39) D134E probably damaging Het
Kif2b C A 11: 91,466,798 (GRCm39) R495I probably damaging Het
Lef1 T C 3: 130,993,938 (GRCm39) probably benign Het
Lias C T 5: 65,548,981 (GRCm39) R4C probably damaging Het
Lpcat2 T C 8: 93,591,560 (GRCm39) V68A probably benign Het
Lrrc37 A T 11: 103,505,768 (GRCm39) S2067T probably benign Het
Lrrc8e A T 8: 4,284,190 (GRCm39) K138N probably damaging Het
Map4k5 G A 12: 69,852,082 (GRCm39) H767Y probably benign Het
Mga C A 2: 119,791,333 (GRCm39) T2406K possibly damaging Het
Mtx1 A T 3: 89,116,648 (GRCm39) S418T probably benign Het
Myh7 C T 14: 55,224,973 (GRCm39) M531I probably benign Het
Myorg C T 4: 41,497,947 (GRCm39) R561H probably benign Het
Ncaph2 T A 15: 89,255,427 (GRCm39) M555K probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Ncoa6 T C 2: 155,244,584 (GRCm39) probably benign Het
Nrp2 A G 1: 62,822,479 (GRCm39) S691G probably benign Het
Odad2 T C 18: 7,222,554 (GRCm39) T572A probably benign Het
Odf2l A T 3: 144,845,543 (GRCm39) probably null Het
Or5aq6 T A 2: 86,923,081 (GRCm39) H220L probably benign Het
Pcdh20 A G 14: 88,705,410 (GRCm39) V630A probably damaging Het
Pebp4 T C 14: 70,285,923 (GRCm39) probably null Het
Ppfia3 T A 7: 45,006,090 (GRCm39) M301L probably benign Het
Ppp1r21 C A 17: 88,858,097 (GRCm39) Q203K probably benign Het
Prr23a1 T C 9: 98,725,406 (GRCm39) V256A probably benign Het
Rbfox1 A G 16: 7,110,091 (GRCm39) R150G possibly damaging Het
Rnps1-ps A T 6: 7,982,943 (GRCm39) noncoding transcript Het
Robo3 T C 9: 37,329,005 (GRCm39) R1238G possibly damaging Het
Rp9 T G 9: 22,365,097 (GRCm39) Q35P probably damaging Het
Shtn1 T A 19: 58,998,222 (GRCm39) K390N probably damaging Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Sirt7 A G 11: 120,515,365 (GRCm39) V97A possibly damaging Het
Slc14a2 A G 18: 78,206,419 (GRCm39) S466P probably benign Het
Slc2a10 T A 2: 165,357,361 (GRCm39) D340E probably benign Het
Slc36a2 A C 11: 55,075,735 (GRCm39) N17K probably benign Het
Slc4a10 A C 2: 62,155,071 (GRCm39) N1086T probably benign Het
Sptb T C 12: 76,676,423 (GRCm39) D177G probably damaging Het
Srpk2 A T 5: 23,730,748 (GRCm39) probably null Het
Sucla2 T G 14: 73,830,121 (GRCm39) V386G probably damaging Het
Susd1 G T 4: 59,424,089 (GRCm39) N45K possibly damaging Het
Tbxas1 T C 6: 38,994,822 (GRCm39) probably benign Het
Topors C T 4: 40,261,776 (GRCm39) E503K probably damaging Het
Trpv5 T C 6: 41,634,731 (GRCm39) R533G probably benign Het
Tshr A G 12: 91,504,115 (GRCm39) H351R possibly damaging Het
Ube2f G A 1: 91,203,037 (GRCm39) V94M probably damaging Het
Ugdh A G 5: 65,580,521 (GRCm39) S216P probably damaging Het
Unc45b T A 11: 82,802,531 (GRCm39) probably null Het
Vmn1r226 A G 17: 20,908,335 (GRCm39) E189G probably damaging Het
Xrcc6 T G 15: 81,913,900 (GRCm39) D75E probably benign Het
Ypel1 A G 16: 16,921,474 (GRCm39) L70P probably damaging Het
Zcwpw1 A T 5: 137,795,022 (GRCm39) R73W probably damaging Het
Zfp219 T C 14: 52,246,512 (GRCm39) E160G probably damaging Het
Zfp804b G T 5: 7,229,533 (GRCm39) probably benign Het
Zscan22 C A 7: 12,640,730 (GRCm39) P325T probably 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
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
R6411: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'- ACCTGAGGCCAACTTAATCCTACAAGTA -3'
(R):5'- TGGCTCAGTAAGCAGAGGCACTA -3'

Sequencing Primer
(F):5'- GACACCAAatatgtgtatg -3'
(R):5'- CACTAGGTGTAAGGGTCTCAC -3'
Posted On 2014-05-09