Mutagenetix > Incidental Mutation

Incidental Mutation 'R7189:Schip1'

559477

Institutional Source

Beutler Lab

Gene Symbol

Schip1

Ensembl Gene

ENSMUSG00000027777

Gene Name

schwannomin interacting protein 1

Synonyms

SCHIP-1

MMRRC Submission

045238-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R7189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67972135-68533814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68525032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 359 (K359M)

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: K359M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029346
Gene: ENSMUSG00000027777
AA Change: K359M

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: K131M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129152
Gene: ENSMUSG00000027777
AA Change: K131M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170788
AA Change: K119M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126443
Gene: ENSMUSG00000027777
AA Change: K119M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182006
AA Change: K434M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138212
Gene: ENSMUSG00000102422
AA Change: K434M

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 damaging
Transcript: ENSMUST00000182532
AA Change: K331M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138245
Gene: ENSMUSG00000027777
AA Change: K331M

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: ENSMUST00000182719
AA Change: K331M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138207
Gene: ENSMUSG00000027777
AA Change: K331M

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: K136M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138241
Gene: ENSMUSG00000027777
AA Change: K136M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192555
AA Change: K331M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142090
Gene: ENSMUSG00000027777
AA Change: K331M

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	G	T	2: 103,397,861 (GRCm39)	A264S	probably benign	Het
Atosa	T	C	9: 74,911,633 (GRCm39)	C42R	probably damaging	Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bmp4	A	G	14: 46,621,456 (GRCm39)	S363P	probably damaging	Het
Cfap54	C	A	10: 92,773,590 (GRCm39)	A2077S	unknown	Het
Chrna7	T	C	7: 62,755,775 (GRCm39)	D257G	probably damaging	Het
Chrnd	C	T	1: 87,118,780 (GRCm39)	R46W	probably damaging	Het
Cntn2	A	G	1: 132,444,824 (GRCm39)	I851T	probably damaging	Het
Col3a1	T	A	1: 45,372,817 (GRCm39)	I534K	unknown	Het
Cyp3a25	A	T	5: 145,939,870 (GRCm39)	L46I	probably benign	Het
Dnah7b	G	C	1: 46,281,302 (GRCm39)	G2788R	probably damaging	Het
Dnpep	T	C	1: 75,290,074 (GRCm39)	E301G	probably damaging	Het
Efcab3	T	C	11: 104,986,690 (GRCm39)	S30P	probably benign	Het
Elk4	A	G	1: 131,947,127 (GRCm39)	I373V	probably damaging	Het
Fam161b	T	C	12: 84,395,420 (GRCm39)	S508G	probably damaging	Het
Fgf10	A	G	13: 118,925,659 (GRCm39)	E146G	probably benign	Het
Fsip2	A	G	2: 82,823,581 (GRCm39)	D6438G	possibly damaging	Het
Garin2	C	T	12: 78,758,982 (GRCm39)	P101S	probably benign	Het
Gask1b	T	A	3: 79,794,114 (GRCm39)	L194*	probably null	Het
Gm49355	T	A	14: 12,296,672 (GRCm38)	C10*	probably null	Het
Hfm1	A	G	5: 107,049,569 (GRCm39)		probably null	Het
Hivep3	T	C	4: 119,989,416 (GRCm39)	S1956P	probably damaging	Het
Hrh2	A	G	13: 54,375,270 (GRCm39)	S369G	unknown	Het
Hspg2	T	C	4: 137,260,872 (GRCm39)		probably null	Het
Hsph1	T	C	5: 149,553,925 (GRCm39)	Y181C	probably damaging	Het
Kcnh8	A	G	17: 53,201,145 (GRCm39)		probably null	Het
Kctd1	C	T	18: 15,195,700 (GRCm39)	E308K	possibly damaging	Het
Kdm8	A	T	7: 125,060,103 (GRCm39)	Y335F	probably damaging	Het
Kif2b	C	G	11: 91,467,963 (GRCm39)	G107R	probably benign	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lepr	T	C	4: 101,671,961 (GRCm39)	V995A	probably benign	Het
Mfsd4a	A	T	1: 131,980,131 (GRCm39)	V375E	probably damaging	Het
Mgl2	G	T	11: 70,027,869 (GRCm39)	W359L	probably damaging	Het
Muc5b	C	A	7: 141,414,798 (GRCm39)	Y2581*	probably null	Het
Nol10	G	T	12: 17,423,562 (GRCm39)		probably null	Het
Or4k47	T	A	2: 111,451,538 (GRCm39)	M294L	probably benign	Het
Or52n3	A	T	7: 104,530,348 (GRCm39)	K145*	probably null	Het
Otud3	C	T	4: 138,636,865 (GRCm39)	V99M	probably damaging	Het
Parvb	T	C	15: 84,187,672 (GRCm39)		probably null	Het
Pclo	C	A	5: 14,571,932 (GRCm39)	P439Q	possibly damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Pkn1	A	T	8: 84,419,302 (GRCm39)	H100Q	possibly damaging	Het
Plce1	A	T	19: 38,748,581 (GRCm39)	I1771F	probably damaging	Het
Plxna2	G	T	1: 194,483,366 (GRCm39)	R1559L	possibly damaging	Het
Ppp2r3d	T	A	9: 101,003,621 (GRCm39)	I416L	possibly damaging	Het
Pramel42	T	A	5: 94,685,610 (GRCm39)	Y423*	probably null	Het
Robo1	C	A	16: 72,757,039 (GRCm39)	C333*	probably null	Het
Ryr2	A	T	13: 11,898,009 (GRCm39)	Y129N	probably damaging	Het
Sh2d2a	T	A	3: 87,755,668 (GRCm39)	S65T	possibly damaging	Het
Ssrp1	G	A	2: 84,875,906 (GRCm39)	M588I	probably benign	Het
Stim2	T	A	5: 54,273,470 (GRCm39)	C567S	probably benign	Het
Syne1	C	A	10: 5,374,295 (GRCm39)	A171S	probably benign	Het
Tigd3	A	G	19: 5,943,050 (GRCm39)	S27P	probably benign	Het
Vipr1	C	A	9: 121,493,620 (GRCm39)	Q224K	probably damaging	Het
Vmn1r75	T	A	7: 11,614,475 (GRCm39)	M69K	possibly damaging	Het
Vmn2r72	T	G	7: 85,404,125 (GRCm39)	D22A	probably benign	Het
Zbtb24	G	A	10: 41,340,472 (GRCm39)	V523I	probably benign	Het
Zbtb43	A	G	2: 33,352,307 (GRCm39)	F20S	probably benign	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
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
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'- ATGTGGAGAGAGGACCCTGTTG -3'
(R):5'- CAATTGCCGGTGCTTCTGAC -3'

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

Posted On

2019-06-26