Incidental Mutation 'R7189:Schip1'
ID559478
Institutional Source Beutler Lab
Gene Symbol Schip1
Ensembl Gene ENSMUSG00000027777
Gene Nameschwannomin interacting protein 1
SynonymsSCHIP-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.689) question?
Stock #R7189 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location68064802-68626481 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 68617700 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 359 (K359N)
Ref Sequence ENSEMBL: ENSMUSP00000029346 (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: K359N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: K359N

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: K131N

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: K131N

DomainStartEndE-ValueType
Pfam:SCHIP-1 20 256 4.3e-154 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170788
AA Change: K119N

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: K119N

DomainStartEndE-ValueType
Pfam:SCHIP-1 8 244 3e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182006
AA Change: K434N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: K434N

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 damaging
Transcript: ENSMUST00000182532
AA Change: K331N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: K331N

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: ENSMUST00000182719
AA Change: K331N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: K331N

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: ENSMUST00000182997
AA Change: K136N

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: K136N

DomainStartEndE-ValueType
Pfam:SCHIP-1 25 261 8.4e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192555
AA Change: K331N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: K331N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (57/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,567,516 A264S probably benign Het
Atr G T 9: 95,862,791 E54* probably null Het
Bmp4 A G 14: 46,383,999 S363P probably damaging Het
Cfap54 C A 10: 92,937,728 A2077S unknown Het
Chrna7 T C 7: 63,106,027 D257G probably damaging Het
Chrnd C T 1: 87,191,058 R46W probably damaging Het
Cntn2 A G 1: 132,517,086 I851T probably damaging Het
Col3a1 T A 1: 45,333,657 I534K unknown Het
Cyp3a25 A T 5: 146,003,060 L46I probably benign Het
Dnah7b G C 1: 46,242,142 G2788R probably damaging Het
Dnpep T C 1: 75,313,430 E301G probably damaging Het
Efcab3 T C 11: 105,095,864 S30P probably benign Het
Elk4 A G 1: 132,019,389 I373V probably damaging Het
Fam161b T C 12: 84,348,646 S508G probably damaging Het
Fam198b T A 3: 79,886,807 L194* probably null Het
Fam214a T C 9: 75,004,351 C42R probably damaging Het
Fam71d C T 12: 78,712,208 P101S probably benign Het
Fgf10 A G 13: 118,789,123 E146G probably benign Het
Fsip2 A G 2: 82,993,237 D6438G possibly damaging Het
Gm3139 T A 5: 94,537,751 Y423* probably null Het
Gm49355 T A 14: 12,296,672 C10* probably null Het
Hfm1 A G 5: 106,901,703 probably null Het
Hivep3 T C 4: 120,132,219 S1956P probably damaging Het
Hrh2 A G 13: 54,221,251 S369G unknown Het
Hspg2 T C 4: 137,533,561 probably null Het
Hsph1 T C 5: 149,630,460 Y181C probably damaging Het
Kcnh8 A G 17: 52,894,117 probably null Het
Kctd1 C T 18: 15,062,643 E308K possibly damaging Het
Kdm8 A T 7: 125,460,931 Y335F probably damaging Het
Kif2b C G 11: 91,577,137 G107R probably benign Het
Lama4 G A 10: 38,965,733 probably benign Het
Lepr T C 4: 101,814,764 V995A probably benign Het
Mfsd4a A T 1: 132,052,393 V375E probably damaging Het
Mgl2 G T 11: 70,137,043 W359L probably damaging Het
Muc5b C A 7: 141,861,061 Y2581* probably null Het
Nol10 G T 12: 17,373,561 probably null Het
Olfr1297 T A 2: 111,621,193 M294L probably benign Het
Olfr665 A T 7: 104,881,141 K145* probably null Het
Otud3 C T 4: 138,909,554 V99M probably damaging Het
Parvb T C 15: 84,303,471 probably null Het
Pclo C A 5: 14,521,918 P439Q possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 probably benign Het
Pkn1 A T 8: 83,692,673 H100Q possibly damaging Het
Plce1 A T 19: 38,760,137 I1771F probably damaging Het
Plxna2 G T 1: 194,801,058 R1559L possibly damaging Het
Ppp2r3a T A 9: 101,126,422 I416L possibly damaging Het
Robo1 C A 16: 72,960,151 C333* probably null Het
Ryr2 A T 13: 11,883,123 Y129N probably damaging Het
Sh2d2a T A 3: 87,848,361 S65T possibly damaging Het
Ssrp1 G A 2: 85,045,562 M588I probably benign Het
Stim2 T A 5: 54,116,128 C567S probably benign Het
Syne1 C A 10: 5,424,295 A171S probably benign Het
Tigd3 A G 19: 5,893,022 S27P probably benign Het
Vipr1 C A 9: 121,664,554 Q224K probably damaging Het
Vmn1r75 T A 7: 11,880,548 M69K possibly damaging Het
Vmn2r72 T G 7: 85,754,917 D22A probably benign Het
Zbtb24 G A 10: 41,464,476 V523I probably benign Het
Zbtb43 A G 2: 33,462,295 F20S probably benign Het
Other mutations in Schip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Schip1 APN 3 68617777 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACCTATGTGGAGAGAGGACC -3'
(R):5'- CCGGTGCTTCTGACAAACTG -3'

Sequencing Primer
(F):5'- AGAGGACCCTGTTGCTAGTGC -3'
(R):5'- CCAAGTTTGCATAACTCTGGG -3'
Posted On2019-06-26