Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03354:Schip1'

419868

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: 0.604) question?

Stock #

IGL03354

Quality Score

Status

Chromosome

Chromosomal Location

67972135-68533814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68402298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 125 (D125G)

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: D153G

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: D153G

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

probably benign
Transcript: ENSMUST00000169909

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182006
AA Change: D228G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: D228G

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: D125G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: D125G

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: D125G

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: D125G

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: ENSMUST00000192555
AA Change: D125G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: D125G

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,041 (GRCm39)	A309T	possibly damaging	Het
Abca15	C	A	7: 119,993,711 (GRCm39)	Y1310*	probably null	Het
Adad1	G	T	3: 37,160,322 (GRCm39)	C552F	probably damaging	Het
Adam22	A	G	5: 8,208,890 (GRCm39)	S180P	possibly damaging	Het
Anxa10	A	T	8: 62,549,778 (GRCm39)	D22E	probably damaging	Het
Astn1	T	C	1: 158,516,174 (GRCm39)	S1255P	probably damaging	Het
Bhlhe41	T	C	6: 145,809,929 (GRCm39)	T92A	probably damaging	Het
Bicc1	G	A	10: 70,782,432 (GRCm39)	P603S	probably benign	Het
Camk2d	T	C	3: 126,590,615 (GRCm39)		probably null	Het
Ccdc136	T	A	6: 29,419,102 (GRCm39)	I808N	probably damaging	Het
Cd200r3	C	T	16: 44,773,960 (GRCm39)	A124V	possibly damaging	Het
Cfap70	T	C	14: 20,482,050 (GRCm39)	E310G	probably damaging	Het
Cyp2d12	A	T	15: 82,443,162 (GRCm39)	D357V	probably damaging	Het
Dnah7b	G	A	1: 46,124,849 (GRCm39)	V173I	probably damaging	Het
Dnajb4	T	A	3: 151,892,115 (GRCm39)	E239D	probably benign	Het
Dzip1	G	A	14: 119,149,981 (GRCm39)		probably benign	Het
Emp2	A	G	16: 10,103,429 (GRCm39)	I74T	probably damaging	Het
Ermn	T	G	2: 57,942,634 (GRCm39)	E32A	probably benign	Het
F10	C	A	8: 13,095,089 (GRCm39)	T82N	probably benign	Het
Fam227a	T	C	15: 79,520,951 (GRCm39)	D295G	possibly damaging	Het
Gm527	T	A	12: 64,969,154 (GRCm39)	F194I	probably damaging	Het
Gmcl1	G	A	6: 86,703,140 (GRCm39)	T98M	probably damaging	Het
Gucy2g	T	C	19: 55,221,512 (GRCm39)	R330G	possibly damaging	Het
H1f4	C	T	13: 23,806,060 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,987,957 (GRCm39)	H549R	probably damaging	Het
Klhl14	T	A	18: 21,784,785 (GRCm39)	D214V	probably damaging	Het
Lipo2	A	G	19: 33,708,270 (GRCm39)	F248S	probably benign	Het
Mctp2	C	T	7: 71,810,992 (GRCm39)	V661I	probably benign	Het
Myh15	A	T	16: 48,992,373 (GRCm39)	M1616L	probably benign	Het
Nlrp4b	A	T	7: 10,448,465 (GRCm39)	I223F	probably damaging	Het
Or1j18	A	T	2: 36,624,524 (GRCm39)	S64C	possibly damaging	Het
Or1j18	G	T	2: 36,624,525 (GRCm39)	S64I	possibly damaging	Het
Or2ad1	T	C	13: 21,326,654 (GRCm39)	Y191C	probably damaging	Het
Or2ag2	A	G	7: 106,485,307 (GRCm39)	V239A	probably benign	Het
Or2b28	T	C	13: 21,531,686 (GRCm39)	V196A	possibly damaging	Het
Or4c3d	A	C	2: 89,881,911 (GRCm39)	C252W	probably damaging	Het
Or5p80	T	A	7: 108,229,735 (GRCm39)	C179S	possibly damaging	Het
Or5w1b	T	C	2: 87,475,939 (GRCm39)	N176S	probably damaging	Het
Pcsk4	T	C	10: 80,161,893 (GRCm39)	D116G	probably damaging	Het
Pibf1	A	G	14: 99,388,174 (GRCm39)	D440G	probably benign	Het
Plekho2	T	C	9: 65,466,703 (GRCm39)	E129G	probably null	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rars1	A	G	11: 35,715,302 (GRCm39)	L248P	probably damaging	Het
Ruvbl1	C	A	6: 88,456,197 (GRCm39)	Y90*	probably null	Het
Skic3	T	C	13: 76,330,941 (GRCm39)	V1457A	possibly damaging	Het
Smarca2	T	C	19: 26,597,303 (GRCm39)	S62P	probably benign	Het
Sort1	T	C	3: 108,256,022 (GRCm39)	V656A	probably benign	Het
Tlr12	A	G	4: 128,509,730 (GRCm39)	L840P	probably damaging	Het
Trpm3	T	A	19: 22,834,082 (GRCm39)	I438N	probably damaging	Het
Wdr11	C	A	7: 129,227,026 (GRCm39)	F829L	probably benign	Het
Zdhhc11	A	T	13: 74,127,264 (GRCm39)	I214F	possibly damaging	Het

Other mutations in Schip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Schip1	APN	3	68,525,110 (GRCm39)	missense	probably damaging	1.00
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
R6460:Schip1	UTSW	3	68,402,227 (GRCm39)	missense	probably benign	0.37
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

Posted On

2016-08-02