Incidental Mutation 'IGL01431:Schip1'
ID 84126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Schip1
Ensembl Gene ENSMUSG00000027777
Gene Name schwannomin interacting protein 1
Synonyms SCHIP-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.597) question?
Stock # IGL01431
Quality Score
Status
Chromosome 3
Chromosomal Location 68064802-68626481 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68617777 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 162 (Q162L)
Ref Sequence ENSEMBL: ENSMUSP00000138241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029346] [ENSMUST00000169909] [ENSMUST00000170788] [ENSMUST00000182006] [ENSMUST00000182532] [ENSMUST00000182719] [ENSMUST00000182997] [ENSMUST00000192555]
AlphaFold P0DPB4
Predicted Effect probably damaging
Transcript: ENSMUST00000029346
AA Change: Q385L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: Q385L

DomainStartEndE-ValueType
low complexity region 33 49 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 95 113 N/A INTRINSIC
low complexity region 123 137 N/A INTRINSIC
low complexity region 186 198 N/A INTRINSIC
Pfam:SCHIP-1 252 481 3.1e-112 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169909
AA Change: Q157L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: Q157L

DomainStartEndE-ValueType
Pfam:SCHIP-1 20 256 4.3e-154 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170788
AA Change: Q145L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: Q145L

DomainStartEndE-ValueType
Pfam:SCHIP-1 8 244 3e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182006
AA Change: Q460L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: Q460L

DomainStartEndE-ValueType
Pfam:IQ-like 1 97 1e-54 PFAM
low complexity region 108 124 N/A INTRINSIC
low complexity region 129 142 N/A INTRINSIC
low complexity region 170 188 N/A INTRINSIC
low complexity region 198 212 N/A INTRINSIC
low complexity region 261 273 N/A INTRINSIC
Pfam:SCHIP-1 323 559 9.8e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182532
AA Change: Q357L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: Q357L

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 26 39 N/A INTRINSIC
low complexity region 67 85 N/A INTRINSIC
low complexity region 95 109 N/A INTRINSIC
low complexity region 158 170 N/A INTRINSIC
Pfam:SCHIP-1 220 456 6.6e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000182719
AA Change: Q357L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: Q357L

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 26 39 N/A INTRINSIC
low complexity region 67 85 N/A INTRINSIC
low complexity region 95 109 N/A INTRINSIC
low complexity region 158 170 N/A INTRINSIC
Pfam:SCHIP-1 220 456 6.6e-154 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182997
AA Change: Q162L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: Q162L

DomainStartEndE-ValueType
Pfam:SCHIP-1 25 261 8.4e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000192555
AA Change: Q357L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: Q357L

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
low complexity region 26 39 N/A INTRINSIC
low complexity region 67 85 N/A INTRINSIC
low complexity region 95 109 N/A INTRINSIC
low complexity region 158 170 N/A INTRINSIC
Pfam:SCHIP-1 220 388 1.1e-103 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects and defective cell mirgration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 (GRCm38) probably benign Het
Adamts7 A G 9: 90,207,785 (GRCm38) I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 (GRCm38) V90M possibly damaging Het
Atf6 T C 1: 170,853,002 (GRCm38) probably benign Het
Cdh3 T C 8: 106,547,669 (GRCm38) Y607H probably damaging Het
Cer1 T A 4: 82,882,831 (GRCm38) E198D probably benign Het
Dscam A G 16: 96,652,078 (GRCm38) probably null Het
Ecel1 C T 1: 87,151,504 (GRCm38) R484H probably damaging Het
Entpd7 C A 19: 43,729,839 (GRCm38) H575Q probably benign Het
F11r T C 1: 171,462,909 (GRCm38) V279A probably damaging Het
Gm17093 T A 14: 44,521,665 (GRCm38) probably benign Het
Got1 T A 19: 43,503,049 (GRCm38) K321* probably null Het
Gpn1 T C 5: 31,507,538 (GRCm38) V302A probably benign Het
Hivep1 G T 13: 42,158,017 (GRCm38) K1244N probably damaging Het
Idh3b T C 2: 130,281,897 (GRCm38) T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 (GRCm38) probably benign Het
Mybl1 G T 1: 9,672,647 (GRCm38) L579I probably damaging Het
Myh14 T A 7: 44,614,358 (GRCm38) T1694S probably null Het
Mylk3 T C 8: 85,336,401 (GRCm38) D537G probably damaging Het
Myo1d A C 11: 80,674,839 (GRCm38) F387V probably damaging Het
Nek9 T C 12: 85,314,587 (GRCm38) Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 (GRCm38) H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 (GRCm38) probably benign Het
Retreg2 T A 1: 75,145,105 (GRCm38) probably null Het
Ripply3 G A 16: 94,328,543 (GRCm38) C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 (GRCm38) probably benign Het
Rrm1 C A 7: 102,457,552 (GRCm38) probably benign Het
Rsad2 T A 12: 26,448,667 (GRCm38) R269S probably benign Het
Sbp A T 17: 23,945,348 (GRCm38) probably benign Het
Senp1 T C 15: 98,082,263 (GRCm38) Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 (GRCm38) R233K probably damaging Het
Smoc1 C A 12: 81,152,751 (GRCm38) S220* probably null Het
Stab1 C A 14: 31,148,995 (GRCm38) R1299I probably benign Het
Stk17b A G 1: 53,765,915 (GRCm38) probably benign Het
Tmc7 T G 7: 118,552,762 (GRCm38) D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 (GRCm38) S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 (GRCm38) T1591K possibly damaging Het
Other mutations in Schip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03354:Schip1 APN 3 68,494,965 (GRCm38) missense possibly damaging 0.94
R0190:Schip1 UTSW 3 68,625,844 (GRCm38) missense probably benign 0.09
R0413:Schip1 UTSW 3 68,494,613 (GRCm38) missense probably damaging 1.00
R1256:Schip1 UTSW 3 68,495,042 (GRCm38) missense probably benign 0.12
R1777:Schip1 UTSW 3 68,617,684 (GRCm38) missense probably damaging 1.00
R2067:Schip1 UTSW 3 68,617,786 (GRCm38) missense probably damaging 1.00
R3027:Schip1 UTSW 3 68,494,610 (GRCm38) missense probably damaging 1.00
R4258:Schip1 UTSW 3 68,618,630 (GRCm38) missense possibly damaging 0.88
R4646:Schip1 UTSW 3 68,064,964 (GRCm38) missense probably benign
R4917:Schip1 UTSW 3 68,408,485 (GRCm38) intron probably benign
R4918:Schip1 UTSW 3 68,408,485 (GRCm38) intron probably benign
R5021:Schip1 UTSW 3 68,495,252 (GRCm38) missense probably benign 0.03
R5194:Schip1 UTSW 3 68,494,872 (GRCm38) missense probably benign 0.15
R5225:Schip1 UTSW 3 68,494,937 (GRCm38) missense probably benign
R5719:Schip1 UTSW 3 68,408,227 (GRCm38) intron probably benign
R6460:Schip1 UTSW 3 68,494,894 (GRCm38) missense probably benign 0.37
R7189:Schip1 UTSW 3 68,617,700 (GRCm38) missense probably damaging 1.00
R7189:Schip1 UTSW 3 68,617,699 (GRCm38) missense probably damaging 1.00
R7727:Schip1 UTSW 3 68,064,984 (GRCm38) missense probably benign 0.09
R7757:Schip1 UTSW 3 68,617,695 (GRCm38) missense probably damaging 0.99
R7793:Schip1 UTSW 3 68,494,578 (GRCm38) missense probably benign 0.00
R8496:Schip1 UTSW 3 68,494,613 (GRCm38) missense probably damaging 1.00
R8500:Schip1 UTSW 3 68,494,613 (GRCm38) missense probably damaging 1.00
R8904:Schip1 UTSW 3 68,495,103 (GRCm38) missense possibly damaging 0.92
R9098:Schip1 UTSW 3 68,064,985 (GRCm38) missense
R9581:Schip1 UTSW 3 68,617,727 (GRCm38) frame shift probably null
R9582:Schip1 UTSW 3 68,617,727 (GRCm38) frame shift probably null
Posted On 2013-11-11