Incidental Mutation 'R8332:Srek1ip1'
ID 644447
Institutional Source Beutler Lab
Gene Symbol Srek1ip1
Ensembl Gene ENSMUSG00000021716
Gene Name splicing regulatory glutamine/lysine-rich protein 1interacting protein 1
Synonyms Sfrs12ip1, 3110031B13Rik, Srsf12ip1
MMRRC Submission 067728-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R8332 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 104953696-104975805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104970757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 69 (R69S)
Ref Sequence ENSEMBL: ENSMUSP00000022230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022230] [ENSMUST00000156105]
AlphaFold Q4V9W2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022230
AA Change: R69S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: R69S

DomainStartEndE-ValueType
ZnF_C2HC 14 30 4.68e-2 SMART
low complexity region 45 58 N/A INTRINSIC
low complexity region 67 93 N/A INTRINSIC
low complexity region 105 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156105
SMART Domains Protein: ENSMUSP00000122592
Gene: ENSMUSG00000021716

DomainStartEndE-ValueType
ZnF_C2HC 14 30 4.68e-2 SMART
low complexity region 45 58 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI

All alleles(14) : Targeted, other(4) Gene trapped(10)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,815,436 (GRCm39) D228G probably benign Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ahdc1 A G 4: 132,791,282 (GRCm39) D841G possibly damaging Het
Alms1 G A 6: 85,597,561 (GRCm39) V796I probably benign Het
Angptl8 A T 9: 21,748,137 (GRCm39) probably null Het
Arhgap23 A T 11: 97,381,960 (GRCm39) S61T unknown Het
Bcl9 C T 3: 97,117,086 (GRCm39) G536D possibly damaging Het
Bscl2 A G 19: 8,823,594 (GRCm39) D220G probably benign Het
Ccl28 C A 13: 120,107,514 (GRCm39) C58* probably null Het
Ccr8 A T 9: 119,923,440 (GRCm39) Y185F probably damaging Het
Chsy3 T A 18: 59,542,087 (GRCm39) H408Q probably damaging Het
Cntrl A G 2: 35,016,037 (GRCm39) E351G probably damaging Het
Cog5 A T 12: 31,883,222 (GRCm39) K384* probably null Het
Cpne1 T C 2: 155,920,317 (GRCm39) T187A probably benign Het
Crat T A 2: 30,295,084 (GRCm39) I444F possibly damaging Het
Crb1 T A 1: 139,165,152 (GRCm39) M1052L probably damaging Het
Cstdc1 A G 2: 148,625,377 (GRCm39) K104E probably damaging Het
Erp44 A G 4: 48,243,475 (GRCm39) probably null Het
Flad1 G T 3: 89,314,828 (GRCm39) Q290K probably benign Het
Gata3os G A 2: 9,887,650 (GRCm39) R17H unknown Het
Gli3 G T 13: 15,888,133 (GRCm39) R516L possibly damaging Het
Gm19402 A T 10: 77,526,048 (GRCm39) C182S unknown Het
Herc2 T C 7: 55,796,343 (GRCm39) I1905T probably damaging Het
Ikbkb A T 8: 23,155,641 (GRCm39) V617D possibly damaging Het
Intu A G 3: 40,629,719 (GRCm39) I350V probably benign Het
Limd1 A G 9: 123,308,319 (GRCm39) D6G probably damaging Het
Llgl1 A G 11: 60,601,210 (GRCm39) D716G possibly damaging Het
Lrp1 G A 10: 127,407,805 (GRCm39) T1828I probably damaging Het
Or2at1 T C 7: 99,417,334 (GRCm39) *322Q probably null Het
Or6c38 A G 10: 128,929,174 (GRCm39) I223T possibly damaging Het
Piezo2 A T 18: 63,145,857 (GRCm39) I2689N possibly damaging Het
Prag1 T C 8: 36,613,457 (GRCm39) I1003T probably damaging Het
Rbm8a2 T C 1: 175,805,967 (GRCm39) D170G unknown Het
Rnf213 A C 11: 119,374,524 (GRCm39) Q5027P Het
Robo1 T C 16: 72,775,466 (GRCm39) Y664H probably damaging Het
Rrn3 T A 16: 13,616,484 (GRCm39) D287E possibly damaging Het
Slc22a16 G A 10: 40,449,741 (GRCm39) R80Q possibly damaging Het
Slc4a4 A T 5: 89,327,680 (GRCm39) T706S probably benign Het
St3gal5 T A 6: 72,119,165 (GRCm39) C119* probably null Het
T2 A G 17: 8,609,784 (GRCm39) M78V probably null Het
Taok1 A T 11: 77,432,545 (GRCm39) V756D possibly damaging Het
Tecta C T 9: 42,286,310 (GRCm39) G782D probably damaging Het
Thbs2 G A 17: 14,900,032 (GRCm39) P615L probably damaging Het
Ttll11 T A 2: 35,830,721 (GRCm39) I217F possibly damaging Het
Vmn2r57 C T 7: 41,049,677 (GRCm39) V691M probably benign Het
Xkr4 T C 1: 3,492,122 (GRCm39) Y267C probably damaging Het
Zfp59 A G 7: 27,552,971 (GRCm39) D141G probably benign Het
Zfp760 A G 17: 21,942,301 (GRCm39) E492G probably damaging Het
Other mutations in Srek1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02617:Srek1ip1 APN 13 104,973,984 (GRCm39) missense possibly damaging 0.53
B6584:Srek1ip1 UTSW 13 104,953,882 (GRCm39) splice site probably benign
R2890:Srek1ip1 UTSW 13 104,970,758 (GRCm39) missense probably benign 0.08
R6019:Srek1ip1 UTSW 13 104,970,830 (GRCm39) critical splice donor site probably null
R6438:Srek1ip1 UTSW 13 104,973,878 (GRCm39) missense probably benign 0.28
R7916:Srek1ip1 UTSW 13 104,973,981 (GRCm39) missense possibly damaging 0.53
R8369:Srek1ip1 UTSW 13 104,970,798 (GRCm39) missense probably benign
R9099:Srek1ip1 UTSW 13 104,973,964 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- CTCACTGTGTTTGAGATTTTCAGAG -3'
(R):5'- AGAGGACTTTGCTAGTTCACTAAAC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CATCTCATTCTCATGAAGAAGACATG -3'
Posted On 2020-09-02