Incidental Mutation 'IGL02617:Srek1ip1'
ID300714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srek1ip1
Ensembl Gene ENSMUSG00000021716
Gene Namesplicing regulatory glutamine/lysine-rich protein 1interacting protein 1
SynonymsSrsf12ip1, Sfrs12ip1, 3110031B13Rik
Accession Numbers

Genbank: NM_026075.2; Ensembl: ENSMUST00000022230

Is this an essential gene? Possibly non essential (E-score: 0.283) question?
Stock #IGL02617
Quality Score
Status
Chromosome13
Chromosomal Location104792484-104839274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 104837476 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 130 (H130Q)
Ref Sequence ENSEMBL: ENSMUSP00000022230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022230] [ENSMUST00000156105]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022230
AA Change: H130Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: H130Q

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,574,444 Q172* probably null Het
Adgrg5 A G 8: 94,933,982 D79G probably benign Het
Aga G A 8: 53,520,313 D249N possibly damaging Het
Aifm3 A G 16: 17,500,533 Q170R probably null Het
Cdh2 T A 18: 16,627,604 N512Y probably damaging Het
Chd8 A G 14: 52,235,191 I385T probably benign Het
Clic6 A G 16: 92,499,318 K289E probably benign Het
Ctcf G T 8: 105,677,210 probably benign Het
Fam129a T A 1: 151,571,545 S6T probably benign Het
Fam160a1 A T 3: 85,673,037 D620E probably benign Het
Fat1 T C 8: 45,035,591 Y3447H probably benign Het
Fmo2 T A 1: 162,876,921 Q472L probably damaging Het
Gcnt3 C A 9: 70,034,162 G375W probably damaging Het
Golga3 T A 5: 110,188,746 V417E probably benign Het
Hivep3 T C 4: 120,095,444 L319P probably benign Het
Kctd13 A G 7: 126,942,332 K248R possibly damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Nmt2 A G 2: 3,314,713 I247V probably benign Het
Olfr294 T G 7: 86,615,664 H327P probably benign Het
Olfr390 T A 11: 73,787,734 N265K probably benign Het
Pcdhb12 T C 18: 37,437,046 V415A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prr27 T A 5: 87,842,659 N43K probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sec24a A T 11: 51,712,187 probably null Het
Trio C T 15: 27,841,849 probably benign Het
Ttn A G 2: 76,778,270 probably benign Het
Vmn2r65 C A 7: 84,940,341 S789I probably damaging Het
Zbtb17 A G 4: 141,465,088 Q448R probably damaging Het
Other mutations in Srek1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
B6584:Srek1ip1 UTSW 13 104817374 splice site probably benign
R2890:Srek1ip1 UTSW 13 104834250 missense probably benign 0.08
R6019:Srek1ip1 UTSW 13 104834322 critical splice donor site probably null
R6438:Srek1ip1 UTSW 13 104837370 missense probably benign 0.28
R7916:Srek1ip1 UTSW 13 104837473 missense possibly damaging 0.53
R8332:Srek1ip1 UTSW 13 104834249 missense possibly damaging 0.53
R8369:Srek1ip1 UTSW 13 104834290 missense probably benign
Posted On2015-04-16