Incidental Mutation 'IGL01431:Schip1'
ID84126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Schip1
Ensembl Gene ENSMUSG00000027777
Gene Nameschwannomin interacting protein 1
SynonymsSCHIP-1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.603) question?
Stock #IGL01431
Quality Score
Status
Chromosome3
Chromosomal Location68064802-68626481 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 68617777 bp
ZygosityHeterozygous
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]
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 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Mylk3 T C 8: 85,336,401 D537G probably damaging Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Schip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03354:Schip1 APN 3 68494965 missense possibly damaging 0.94
R0190:Schip1 UTSW 3 68625844 missense probably benign 0.09
R0413:Schip1 UTSW 3 68494613 missense probably damaging 1.00
R1256:Schip1 UTSW 3 68495042 missense probably benign 0.12
R1777:Schip1 UTSW 3 68617684 missense probably damaging 1.00
R2067:Schip1 UTSW 3 68617786 missense probably damaging 1.00
R3027:Schip1 UTSW 3 68494610 missense probably damaging 1.00
R4258:Schip1 UTSW 3 68618630 missense possibly damaging 0.88
R4646:Schip1 UTSW 3 68064964 missense probably benign
R4917:Schip1 UTSW 3 68408485 intron probably benign
R4918:Schip1 UTSW 3 68408485 intron probably benign
R5021:Schip1 UTSW 3 68495252 missense probably benign 0.03
R5194:Schip1 UTSW 3 68494872 missense probably benign 0.15
R5225:Schip1 UTSW 3 68494937 missense probably benign
R5719:Schip1 UTSW 3 68408227 intron probably benign
R6460:Schip1 UTSW 3 68494894 missense probably benign 0.37
R7189:Schip1 UTSW 3 68617699 missense probably damaging 1.00
R7189:Schip1 UTSW 3 68617700 missense probably damaging 1.00
R7727:Schip1 UTSW 3 68064984 missense probably benign 0.09
R7757:Schip1 UTSW 3 68617695 missense probably damaging 0.99
R7793:Schip1 UTSW 3 68494578 missense probably benign 0.00
R8496:Schip1 UTSW 3 68494613 missense probably damaging 1.00
R8500:Schip1 UTSW 3 68494613 missense probably damaging 1.00
Posted On2013-11-11