Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Schip1'

597590

Institutional Source

Beutler Lab

Gene Symbol

Schip1

Ensembl Gene

ENSMUSG00000027777

Gene Name

schwannomin interacting protein 1

Synonyms

SCHIP-1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68064802-68626481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 68617695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 358 (Q358K)

Ref Sequence

ENSEMBL: ENSMUSP00000029346 (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: Q358K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: Q358K

Domain	Start	End	E-Value	Type
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: Q130K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: Q130K

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	20	256	4.3e-154	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170788
AA Change: Q118K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: Q118K

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	8	244	3e-155	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182006
AA Change: Q433K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: Q433K

Domain	Start	End	E-Value	Type
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: Q330K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: Q330K

Domain	Start	End	E-Value	Type
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: Q330K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: Q330K

Domain	Start	End	E-Value	Type
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: Q135K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: Q135K

Domain	Start	End	E-Value	Type
Pfam:SCHIP-1	25	261	8.4e-155	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192555
AA Change: Q330K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: Q330K

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	Het

Other mutations in Schip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7189:Schip1	UTSW	3	68617700	missense	probably damaging	1.00
R7727:Schip1	UTSW	3	68064984	missense	probably benign	0.09
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
R8904:Schip1	UTSW	3	68495103	missense	possibly damaging	0.92
R9098:Schip1	UTSW	3	68064985	missense
R9581:Schip1	UTSW	3	68617727	frame shift	probably null
R9582:Schip1	UTSW	3	68617727	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTATGTGGAGAGAGGACC -3'
(R):5'- TGCCGGTGCTTCTGACAAAC -3'

Sequencing Primer
(F):5'- AGAGGACCCTGTTGCTAGTGC -3'
(R):5'- CCAAGTTTGCATAACTCTGGG -3'

Posted On

2019-11-26