Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Schip1'

402540

Institutional Source

Beutler Lab

Gene Symbol

Schip1

Ensembl Gene

ENSMUSG00000027777

Gene Name

schwannomin interacting protein 1

Synonyms

SCHIP-1

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67972135-68533814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68402270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 116 (M116V)

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: M144V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: M144V

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

probably benign
Transcript: ENSMUST00000182006
AA Change: M219V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: M219V

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

probably benign
Transcript: ENSMUST00000182532
AA Change: M116V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: M116V

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 benign
Transcript: ENSMUST00000182719
AA Change: M116V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: M116V

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 benign
Transcript: ENSMUST00000192555
AA Change: M116V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: M116V

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,226,839 (GRCm39)	R465*	probably null	Het
Abcg3	A	T	5: 105,114,649 (GRCm39)	D289E	probably damaging	Het
Ablim2	G	T	5: 36,024,115 (GRCm39)		probably null	Het
Acp1	A	T	12: 30,955,078 (GRCm39)	V36D	probably benign	Het
Adgrb1	T	A	15: 74,449,348 (GRCm39)		probably benign	Het
Akap6	G	A	12: 52,933,329 (GRCm39)	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,609,715 (GRCm39)		probably benign	Het
Bmp1	G	A	14: 70,717,605 (GRCm39)	R789W	probably damaging	Het
Catspere2	A	T	1: 177,976,474 (GRCm39)		probably benign	Het
Cfhr2	T	A	1: 139,749,520 (GRCm39)	Y154F	possibly damaging	Het
Cilp2	T	C	8: 70,336,015 (GRCm39)	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,584,516 (GRCm39)	K513*	probably null	Het
Dennd4a	G	T	9: 64,796,210 (GRCm39)	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,655,085 (GRCm39)	S542T	probably benign	Het
Dmbt1	A	T	7: 130,696,465 (GRCm39)	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,353,130 (GRCm39)	E2761V	possibly damaging	Het
F11	T	C	8: 45,708,341 (GRCm39)	T40A	probably benign	Het
Fam227a	T	C	15: 79,520,936 (GRCm39)	D296G	possibly damaging	Het
Fance	C	T	17: 28,534,589 (GRCm39)		probably benign	Het
Gaa	A	G	11: 119,167,669 (GRCm39)	D149G	probably damaging	Het
Gapt	A	G	13: 110,490,522 (GRCm39)	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,813,774 (GRCm39)	N202D	probably damaging	Het
Gm7535	T	C	17: 18,131,809 (GRCm39)		probably benign	Het
Gm973	T	A	1: 59,601,859 (GRCm39)	M491K	probably benign	Het
Gmnc	A	G	16: 26,782,695 (GRCm39)	V27A	probably benign	Het
Kif27	T	C	13: 58,440,915 (GRCm39)	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Lime1	T	A	2: 181,024,640 (GRCm39)	M98K	probably benign	Het
Lrp1	C	A	10: 127,391,965 (GRCm39)	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,908,735 (GRCm39)	S669N	probably benign	Het
Mmel1	A	G	4: 154,976,456 (GRCm39)	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,198,535 (GRCm39)	L206V	probably damaging	Het
Nagpa	C	T	16: 5,021,596 (GRCm39)	A52T	probably benign	Het
Or1o3	A	G	17: 37,573,919 (GRCm39)	V212A	probably benign	Het
Or4c3	T	G	2: 89,851,528 (GRCm39)	D294A	probably benign	Het
Orai2	A	G	5: 136,190,355 (GRCm39)	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,502,209 (GRCm39)	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,138,986 (GRCm39)	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,613,011 (GRCm39)	V657A	probably benign	Het
Prdm15	G	T	16: 97,609,875 (GRCm39)	H590N	probably damaging	Het
Psg18	T	C	7: 18,079,874 (GRCm39)	I442M	probably damaging	Het
Pygm	C	A	19: 6,439,494 (GRCm39)	D279E	probably benign	Het
Rrn3	T	A	16: 13,610,798 (GRCm39)		probably null	Het
Sass6	T	C	3: 116,407,702 (GRCm39)	S273P	possibly damaging	Het
Sdc3	G	A	4: 130,546,087 (GRCm39)	V55I	unknown	Het
Serpinb8	T	A	1: 107,525,201 (GRCm39)	M1K	probably null	Het
Slc24a5	T	C	2: 124,927,739 (GRCm39)	I346T	probably damaging	Het
Slc35f3	T	A	8: 127,117,846 (GRCm39)	I335N	probably damaging	Het
Snapc2	T	A	8: 4,305,299 (GRCm39)	V147E	probably damaging	Het
Snx2	T	C	18: 53,322,784 (GRCm39)	S56P	possibly damaging	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Stk19	A	T	17: 35,040,400 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,911,702 (GRCm39)	E692G	probably benign	Het
Tet1	C	T	10: 62,674,450 (GRCm39)	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406 (GRCm39)	T1639A	probably benign	Het
Tmem135	G	T	7: 88,845,335 (GRCm39)	Y165*	probably null	Het
Tmprss6	T	C	15: 78,336,707 (GRCm39)	T398A	probably damaging	Het
Ube4a	C	T	9: 44,851,258 (GRCm39)		probably null	Het
Vmn1r227	T	C	17: 20,955,499 (GRCm39)		noncoding transcript	Het
Wdhd1	T	C	14: 47,488,273 (GRCm39)	S745G	probably benign	Het
Xylt1	A	G	7: 117,191,263 (GRCm39)	H353R	probably damaging	Het
Zfp788	A	G	7: 41,298,980 (GRCm39)	T539A	probably benign	Het
Zfp866	A	T	8: 70,218,091 (GRCm39)	F510I	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGTCTACCAGAAGAAGGTGATTG -3'
(R):5'- AATGCCTCCCAGTCCATTGG -3'

Sequencing Primer
(F):5'- AAGGTGATTGATGAGTGGGCTCC -3'
(R):5'- AGGGGGTTCTTCCGGGAC -3'

Posted On

2016-07-22