Incidental Mutation 'R6438:Srek1ip1'
ID 518867
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 044576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R6438 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 104953696-104975805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104973878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 95 (Y95C)
Ref Sequence ENSEMBL: ENSMUSP00000022230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022230] [ENSMUST00000156105]
AlphaFold Q4V9W2
Predicted Effect probably benign
Transcript: ENSMUST00000022230
AA Change: Y95C

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: Y95C

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 noncoding transcript
Transcript: ENSMUST00000137278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145661
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147061
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
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 100% (35/35)
Allele List at MGI

All alleles(14) : Targeted, other(4) Gene trapped(10)
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado A T 10: 67,384,371 (GRCm39) I78N probably damaging Het
Arhgap18 T C 10: 26,648,694 (GRCm39) probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atxn2 T A 5: 121,917,495 (GRCm39) I463N probably damaging Het
B3gnt4 G A 5: 123,649,654 (GRCm39) E340K probably benign Het
C1ra C T 6: 124,490,736 (GRCm39) T43I possibly damaging Het
C6 T A 15: 4,826,465 (GRCm39) Y683N possibly damaging Het
Catspere2 T C 1: 177,938,869 (GRCm39) Y581H possibly damaging Het
Cdk12 T A 11: 98,115,293 (GRCm39) Y811* probably null Het
Cfap20dc C T 14: 8,431,701 (GRCm38) V644M probably damaging Het
Chd9 A T 8: 91,725,149 (GRCm39) E1159D probably benign Het
Efcab7 T A 4: 99,766,969 (GRCm39) S505T probably benign Het
Erich3 A T 3: 154,401,390 (GRCm39) Y13F probably damaging Het
Esco1 A T 18: 10,572,031 (GRCm39) C770S probably damaging Het
Evpl C A 11: 116,120,927 (GRCm39) R436L probably benign Het
Fam185a T A 5: 21,663,970 (GRCm39) probably null Het
Gm17078 A G 14: 51,848,695 (GRCm39) V14A probably benign Het
Hectd2 T C 19: 36,596,242 (GRCm39) *776Q probably null Het
Ldb2 T C 5: 44,637,652 (GRCm39) R219G probably damaging Het
Lrrn4 T C 2: 132,712,062 (GRCm39) E587G probably damaging Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Map7 A G 10: 20,143,003 (GRCm39) E384G unknown Het
Miga1 T C 3: 152,028,040 (GRCm39) D163G probably damaging Het
Myo7b G A 18: 32,099,382 (GRCm39) S1680F probably damaging Het
Nell2 C T 15: 95,130,379 (GRCm39) V665M probably damaging Het
Npas3 T C 12: 54,115,481 (GRCm39) V770A probably damaging Het
Pcm1 C T 8: 41,778,418 (GRCm39) R1818W possibly damaging Het
Slc4a9 T A 18: 36,668,740 (GRCm39) N701K probably benign Het
Slc5a9 A G 4: 111,749,022 (GRCm39) V187A probably benign Het
Slf1 A T 13: 77,214,725 (GRCm39) C654S probably damaging Het
Synpo2l A G 14: 20,711,204 (GRCm39) V472A probably benign Het
Tmem168 A T 6: 13,602,673 (GRCm39) I231N probably benign Het
Usp34 T C 11: 23,314,266 (GRCm39) M717T probably benign Het
Zfp672 T C 11: 58,207,563 (GRCm39) T253A probably benign 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
R7916:Srek1ip1 UTSW 13 104,973,981 (GRCm39) missense possibly damaging 0.53
R8332:Srek1ip1 UTSW 13 104,970,757 (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'- TCTCTAGTGCTAAGCAGAGAGG -3'
(R):5'- TTTCTGAGTTAGGCCCAAGACG -3'

Sequencing Primer
(F):5'- CAGAGAGGAGATGGTAGCTTTATC -3'
(R):5'- AGTTAGGCCCAAGACGCTGTTAC -3'
Posted On 2018-05-24