Incidental Mutation 'R6460:Schip1'
ID 517550
Institutional Source Beutler Lab
Gene Symbol Schip1
Ensembl Gene ENSMUSG00000027777
Gene Name schwannomin interacting protein 1
Synonyms SCHIP-1
MMRRC Submission 044595-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # R6460 (G1)
Quality Score 152.008
Status Not validated
Chromosome 3
Chromosomal Location 67972135-68533814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68402227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 101 (S101R)
Ref Sequence ENSEMBL: ENSMUSP00000142090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029346] [ENSMUST00000169909] [ENSMUST00000182006] [ENSMUST00000182532] [ENSMUST00000182719] [ENSMUST00000192555]
AlphaFold P0DPB4
Predicted Effect probably benign
Transcript: ENSMUST00000029346
AA Change: S129R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: S129R

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 probably benign
Transcript: ENSMUST00000169909
SMART Domains Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777

DomainStartEndE-ValueType
Pfam:SCHIP-1 20 256 4.3e-154 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182006
AA Change: S204R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: S204R

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 probably benign
Transcript: ENSMUST00000182532
AA Change: S101R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: S101R

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 benign
Transcript: ENSMUST00000182719
AA Change: S101R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: S101R

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 benign
Transcript: ENSMUST00000192555
AA Change: S101R

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: S101R

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,862 (GRCm39) H1528L probably benign Het
Ablim1 A G 19: 57,068,271 (GRCm39) S263P possibly damaging Het
Ahnak2 T C 12: 112,750,610 (GRCm39) E104G probably null Het
Apof T A 10: 128,105,086 (GRCm39) M80K probably damaging Het
Arfgef1 C T 1: 10,283,285 (GRCm39) R208H probably damaging Het
Arhgef33 A G 17: 80,657,018 (GRCm39) probably null Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,093,420 (GRCm39) probably benign Het
Cabcoco1 T C 10: 68,352,211 (GRCm39) K34E probably damaging Het
Col4a4 C A 1: 82,444,253 (GRCm39) G1338V unknown Het
Coq9 T A 8: 95,579,814 (GRCm39) D256E probably damaging Het
Dnajc18 A T 18: 35,833,963 (GRCm39) C41S probably benign Het
Dnajc6 A G 4: 101,472,795 (GRCm39) I307M probably damaging Het
Emg1 A G 6: 124,688,870 (GRCm39) V46A probably damaging Het
Eya3 A G 4: 132,408,174 (GRCm39) S157G probably damaging Het
Eya4 T C 10: 23,027,910 (GRCm39) N274S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 A G 9: 15,878,296 (GRCm39) V3395A probably damaging Het
Fchsd1 A T 18: 38,092,897 (GRCm39) probably null Het
Gm4846 A G 1: 166,325,082 (GRCm39) V3A probably benign Het
Hecw2 T A 1: 53,907,992 (GRCm39) probably null Het
Herc3 T A 6: 58,867,108 (GRCm39) I10N probably damaging Het
Hhatl C T 9: 121,618,588 (GRCm39) R138H probably benign Het
Hspa9 A T 18: 35,085,765 (GRCm39) H35Q probably benign Het
Irgq T A 7: 24,233,115 (GRCm39) S319T probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ksr2 T A 5: 117,894,449 (GRCm39) probably null Het
Lrriq1 T C 10: 103,036,559 (GRCm39) I865V probably damaging Het
Map2k1 A G 9: 64,094,577 (GRCm39) L355P probably damaging Het
Muc16 A G 9: 18,551,812 (GRCm39) I4827T probably benign Het
Myh1 T C 11: 67,112,202 (GRCm39) V1752A probably benign Het
Nfatc2ip A G 7: 125,986,909 (GRCm39) V282A probably damaging Het
Nrg1 T A 8: 32,308,561 (GRCm39) E485V probably damaging Het
Ofcc1 T C 13: 40,441,455 (GRCm39) D2G probably damaging Het
Or10d3 CAGAG CAG 9: 39,462,088 (GRCm39) probably null Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pom121 T C 5: 135,420,537 (GRCm39) K295E unknown Het
Rb1 A C 14: 73,515,894 (GRCm39) I294R probably benign Het
Sec24c T A 14: 20,740,868 (GRCm39) Y629N probably damaging Het
Shkbp1 T A 7: 27,049,963 (GRCm39) H305L probably benign Het
Spag9 T C 11: 93,959,801 (GRCm39) I187T probably damaging Het
Srp72 C A 5: 77,135,838 (GRCm39) T256K probably damaging Het
Stk32c T A 7: 138,685,190 (GRCm39) N320I probably damaging Het
Stxbp4 A T 11: 90,497,811 (GRCm39) S163T probably benign Het
Sycp1 T G 3: 102,832,569 (GRCm39) Y199S probably damaging Het
Tpk1 T C 6: 43,445,961 (GRCm39) D159G probably benign Het
Trav21-dv12 C T 14: 54,114,191 (GRCm39) H104Y probably benign Het
Trip4 A T 9: 65,788,302 (GRCm39) Y48N probably damaging Het
Trmt10b A G 4: 45,314,322 (GRCm39) T255A possibly damaging Het
Ttn G A 2: 76,747,232 (GRCm39) Q4606* probably null Het
Vcan T A 13: 89,838,806 (GRCm39) K2246M possibly damaging Het
Zfp438 C A 18: 5,213,603 (GRCm39) G452C probably damaging Het
Zfp54 T A 17: 21,654,004 (GRCm39) I166N probably benign Het
Zfp735 T C 11: 73,602,478 (GRCm39) V474A probably benign Het
Zfp831 G T 2: 174,488,360 (GRCm39) G1012W possibly damaging Het
Other mutations in Schip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Schip1 APN 3 68,525,110 (GRCm39) missense probably damaging 1.00
IGL03354:Schip1 APN 3 68,402,298 (GRCm39) missense possibly damaging 0.94
R0190:Schip1 UTSW 3 68,533,177 (GRCm39) missense probably benign 0.09
R0413:Schip1 UTSW 3 68,401,946 (GRCm39) missense probably damaging 1.00
R1256:Schip1 UTSW 3 68,402,375 (GRCm39) missense probably benign 0.12
R1777:Schip1 UTSW 3 68,525,017 (GRCm39) missense probably damaging 1.00
R2067:Schip1 UTSW 3 68,525,119 (GRCm39) missense probably damaging 1.00
R3027:Schip1 UTSW 3 68,401,943 (GRCm39) missense probably damaging 1.00
R4258:Schip1 UTSW 3 68,525,963 (GRCm39) missense possibly damaging 0.88
R4646:Schip1 UTSW 3 67,972,297 (GRCm39) missense probably benign
R4917:Schip1 UTSW 3 68,315,818 (GRCm39) intron probably benign
R4918:Schip1 UTSW 3 68,315,818 (GRCm39) intron probably benign
R5021:Schip1 UTSW 3 68,402,585 (GRCm39) missense probably benign 0.03
R5194:Schip1 UTSW 3 68,402,205 (GRCm39) missense probably benign 0.15
R5225:Schip1 UTSW 3 68,402,270 (GRCm39) missense probably benign
R5719:Schip1 UTSW 3 68,315,560 (GRCm39) intron probably benign
R7189:Schip1 UTSW 3 68,525,033 (GRCm39) missense probably damaging 1.00
R7189:Schip1 UTSW 3 68,525,032 (GRCm39) missense probably damaging 1.00
R7727:Schip1 UTSW 3 67,972,317 (GRCm39) missense probably benign 0.09
R7757:Schip1 UTSW 3 68,525,028 (GRCm39) missense probably damaging 0.99
R7793:Schip1 UTSW 3 68,401,911 (GRCm39) missense probably benign 0.00
R8496:Schip1 UTSW 3 68,401,946 (GRCm39) missense probably damaging 1.00
R8500:Schip1 UTSW 3 68,401,946 (GRCm39) missense probably damaging 1.00
R8904:Schip1 UTSW 3 68,402,436 (GRCm39) missense possibly damaging 0.92
R9098:Schip1 UTSW 3 67,972,318 (GRCm39) missense
R9581:Schip1 UTSW 3 68,525,060 (GRCm39) frame shift probably null
R9582:Schip1 UTSW 3 68,525,060 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CTGGAAGACTATGAAGAGCCC -3'
(R):5'- CAATGCCTCCCAGTCCATTG -3'

Sequencing Primer
(F):5'- CTTCCCGGTCTACCAGAAGAAGG -3'
(R):5'- CCCAGATGCCCGGTTTC -3'
Posted On 2018-05-21