Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Schip1'

84126

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

Is this an essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

68064802-68626481 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68617777 bp

Zygosity

Heterozygous

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

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: Q157L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: Q157L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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: Q357L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: Q357L

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: Q357L

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: Q357L

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: Q162L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: Q162L

Domain	Start	End	E-Value	Type
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2013-11-11