Incidental Mutation 'R9683:Rsrc1'
ID 728673
Institutional Source Beutler Lab
Gene Symbol Rsrc1
Ensembl Gene ENSMUSG00000034544
Gene Name arginine/serine-rich coiled-coil 1
Synonyms SRrp53, 1200013F24Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R9683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 66888723-67265729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67257328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 247 (S247T)
Ref Sequence ENSEMBL: ENSMUSP00000066797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162693]
AlphaFold Q9DBU6
Predicted Effect probably damaging
Transcript: ENSMUST00000046542
AA Change: S205T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: S205T

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 damaging
Transcript: ENSMUST00000065047
AA Change: S189T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: S189T

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: S247T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: S247T

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: S247T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: S247T

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: S247T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: S247T

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: ENSMUST00000162693
AA Change: S245T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: S245T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,200,095 (GRCm39) G499D probably benign Het
Acr T A 15: 89,457,440 (GRCm39) Y229* probably null Het
Adam6b G T 12: 113,454,176 (GRCm39) C331F probably benign Het
Ahnak T C 19: 8,984,719 (GRCm39) V2001A possibly damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Anln A T 9: 22,283,536 (GRCm39) C432* probably null Het
Aox4 T C 1: 58,278,462 (GRCm39) probably null Het
Astn1 A G 1: 158,491,619 (GRCm39) I1007V possibly damaging Het
Bicral T C 17: 47,122,944 (GRCm39) D649G possibly damaging Het
C1qbp G A 11: 70,873,749 (GRCm39) R10C probably damaging Het
Cass4 C T 2: 172,268,656 (GRCm39) P246L probably damaging Het
Celsr3 T A 9: 108,704,522 (GRCm39) V335E probably damaging Het
Cfap52 T A 11: 67,822,639 (GRCm39) T411S probably benign Het
Cnot6 A T 11: 49,580,164 (GRCm39) L43I possibly damaging Het
Col9a3 G A 2: 180,248,322 (GRCm39) probably null Het
Dnah14 A G 1: 181,426,509 (GRCm39) R210G probably benign Het
Fat4 A G 3: 38,943,332 (GRCm39) S742G possibly damaging Het
Fbn2 C T 18: 58,186,099 (GRCm39) V1750M probably benign Het
Glrx2 A G 1: 143,622,292 (GRCm39) D96G probably damaging Het
Gm8369 T C 19: 11,489,097 (GRCm39) L128P probably damaging Het
Gpr155 A G 2: 73,192,780 (GRCm39) I585T probably benign Het
Heatr1 T C 13: 12,449,140 (GRCm39) S1907P probably damaging Het
Hscb T C 5: 110,983,881 (GRCm39) T129A possibly damaging Het
Itgb5 T A 16: 33,740,335 (GRCm39) Y482N probably damaging Het
Kmt5b T A 19: 3,865,587 (GRCm39) *884R probably null Het
L3mbtl1 A T 2: 162,812,228 (GRCm39) T758S possibly damaging Het
Mindy1 A T 3: 95,202,176 (GRCm39) H351L probably benign Het
Mmel1 A T 4: 154,977,285 (GRCm39) I552F probably damaging Het
Mos T C 4: 3,871,186 (GRCm39) D210G probably benign Het
Npl A C 1: 153,421,030 (GRCm39) I16S possibly damaging Het
Nutm2 C A 13: 50,629,017 (GRCm39) P694T possibly damaging Het
Or1e1c G A 11: 73,265,811 (GRCm39) V82I probably damaging Het
Or52ae7 A G 7: 103,119,157 (GRCm39) probably benign Het
Plekhg4 T C 8: 106,102,923 (GRCm39) F261L probably benign Het
Ppfia3 T A 7: 45,005,999 (GRCm39) N331I probably benign Het
Ppp1r12a T A 10: 108,096,747 (GRCm39) S712R possibly damaging Het
Psg20 T A 7: 18,416,508 (GRCm39) K203* probably null Het
Recql C T 6: 142,305,646 (GRCm39) R234Q Het
Rerg A G 6: 137,033,252 (GRCm39) F160S probably damaging Het
Rp1l1 A G 14: 64,269,126 (GRCm39) K1571E probably damaging Het
Sacs T A 14: 61,450,881 (GRCm39) I4309N possibly damaging Het
Setd7 A T 3: 51,450,111 (GRCm39) I105N possibly damaging Het
Sgk1 AAGA AAGAGA 10: 21,868,290 (GRCm39) probably null Het
Siglec1 T A 2: 130,921,236 (GRCm39) H645L probably damaging Het
Slain1 A T 14: 103,925,621 (GRCm39) D323V probably damaging Het
Slc25a10 A G 11: 120,386,312 (GRCm39) N139D probably damaging Het
Slc9a9 T G 9: 94,552,235 (GRCm39) F41V probably damaging Het
Spag9 A C 11: 93,988,568 (GRCm39) E879D probably damaging Het
Tdrd7 T A 4: 46,025,946 (GRCm39) L922Q probably damaging Het
Tiprl A G 1: 165,050,147 (GRCm39) F156S probably damaging Het
Tmem185b G C 1: 119,454,748 (GRCm39) V170L probably damaging Het
Top2a G A 11: 98,887,683 (GRCm39) T1275I probably benign Het
Tpp1 A G 7: 105,398,104 (GRCm39) L353P probably damaging Het
Twnk T A 19: 44,998,622 (GRCm39) H513Q probably damaging Het
Ubr5 C T 15: 37,978,271 (GRCm39) V2467I Het
Vmn2r16 T A 5: 109,511,677 (GRCm39) I628N probably damaging Het
Zan T C 5: 137,462,776 (GRCm39) E801G unknown Het
Zfp810 T C 9: 22,189,799 (GRCm39) R370G possibly damaging Het
Zfp955a A G 17: 33,461,587 (GRCm39) S182P probably benign Het
Znrf3 T C 11: 5,394,465 (GRCm39) T72A 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
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
Z1176:Rsrc1 UTSW 3 67,257,315 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTCATGTGGAACAGTGCC -3'
(R):5'- GGACATTACAGAATCATATGTGGTG -3'

Sequencing Primer
(F):5'- GCTCATGTGGAACAGTGCCTATTAC -3'
(R):5'- GGTACCAGAACCATGTTTACAATAC -3'
Posted On 2022-10-06