Mutagenetix > Incidental Mutations

Incidental Mutation 'R1630:Shcbp1'

172736

Institutional Source

Beutler Lab

Gene Symbol

Shcbp1

Ensembl Gene

ENSMUSG00000022322

Gene Name

Shc SH2-domain binding protein 1

Synonyms

mPAL

MMRRC Submission

039667-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4735976-4779567 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 4748763 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 118 (C118*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022945]

Predicted Effect

probably null
Transcript: ENSMUST00000022945
AA Change: C385*

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: C385*

Domain	Start	End	E-Value	Type
low complexity region	210	219	N/A	INTRINSIC
low complexity region	262	275	N/A	INTRINSIC
PbH1	428	451	8.61e3	SMART
PbH1	452	473	2.38e3	SMART
PbH1	474	496	9.62e2	SMART
PbH1	497	518	1.07e2	SMART
PbH1	526	548	1.74e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207665

Predicted Effect

probably null
Transcript: ENSMUST00000207876
AA Change: C118*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208856

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal viability, fertility and T cell development but show decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	C	A	13: 47,960,725		noncoding transcript	Het
9930012K11Rik	T	C	14: 70,157,180	E175G	probably benign	Het
A630091E08Rik	A	G	7: 98,543,607		noncoding transcript	Het
Atm	A	T	9: 53,479,673	L1867Q	probably damaging	Het
Atp5a1	A	G	18: 77,777,567	D63G	possibly damaging	Het
Baz2b	A	T	2: 60,006,130	S20T	unknown	Het
C1qtnf7	G	A	5: 43,609,161	C34Y	possibly damaging	Het
Cactin	A	G	10: 81,323,725	T353A	probably benign	Het
Cdyl	A	G	13: 35,683,803	K21E	possibly damaging	Het
Crispld1	A	G	1: 17,728,798	T48A	probably benign	Het
Csmd3	T	A	15: 47,838,522	T1722S	possibly damaging	Het
Dapk1	A	T	13: 60,729,531	E528V	probably damaging	Het
Dennd4a	A	G	9: 64,871,882	D549G	probably benign	Het
Dnajc5b	C	A	3: 19,574,741	N66K	probably damaging	Het
Dusp16	G	T	6: 134,720,561	R250S	probably damaging	Het
F10	A	G	8: 13,055,551	N384S	probably benign	Het
Gabrr2	A	G	4: 33,085,647	S331G	probably damaging	Het
Gm12185	A	C	11: 48,907,890	I592S	probably benign	Het
Gm9755	T	C	8: 67,514,660		noncoding transcript	Het
Hspg2	T	C	4: 137,518,435	L913P	probably damaging	Het
Ifna1	T	A	4: 88,850,329	S81R	probably benign	Het
Iqgap2	T	C	13: 95,689,785	K510E	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lhx6	A	G	2: 36,102,901	Y140H	probably damaging	Het
Lix1	A	G	17: 17,457,158	H205R	probably damaging	Het
Masp2	A	T	4: 148,614,033	T524S	probably benign	Het
Mndal	A	C	1: 173,874,392	F115V	possibly damaging	Het
Morc3	C	A	16: 93,866,533	N541K	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myocd	A	G	11: 65,196,394	S236P	probably damaging	Het
Nes	T	A	3: 87,977,677	V1037E	probably benign	Het
Nfkbil1	A	G	17: 35,221,164	W178R	probably damaging	Het
Nobox	A	T	6: 43,307,212	C8*	probably null	Het
Nwd1	A	G	8: 72,667,029	T348A	possibly damaging	Het
Olfr1048	A	G	2: 86,236,086	S243P	probably damaging	Het
Olfr1350	T	C	7: 6,570,674	S228P	probably damaging	Het
Olfr382	T	C	11: 73,516,720	T160A	probably damaging	Het
Osbp2	T	C	11: 3,717,167	T448A	probably benign	Het
Plrg1	A	G	3: 83,058,763	D75G	probably benign	Het
Ppp1r8	T	C	4: 132,829,437	E213G	probably benign	Het
Rad54l2	A	G	9: 106,703,629	F898L	possibly damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rasl10a	G	C	11: 5,059,542	R110P	probably damaging	Het
Rttn	T	C	18: 89,042,954	I1082T	probably benign	Het
Sema6d	A	G	2: 124,664,345	D734G	possibly damaging	Het
Sgce	C	T	6: 4,719,476	V44M	probably damaging	Het
Sgo2b	A	G	8: 63,927,797	V667A	possibly damaging	Het
Slain2	C	T	5: 72,976,004	P563S	probably damaging	Het
Slco1b2	A	T	6: 141,656,821	I167F	probably damaging	Het
Speg	T	C	1: 75,422,977	L2356P	probably damaging	Het
Sptbn4	A	G	7: 27,418,739	V305A	probably benign	Het
Sspo	G	A	6: 48,457,724	R1050H	probably benign	Het
Tmem106b	A	G	6: 13,081,541	N149S	probably benign	Het
Tmem200a	T	C	10: 25,992,914	T486A	probably damaging	Het
Tmem212	T	A	3: 27,885,101	T79S	possibly damaging	Het
Ttll11	A	G	2: 35,889,325	V471A	probably damaging	Het
Vill	A	G	9: 119,070,701	N318D	probably benign	Het
Vmn2r102	A	G	17: 19,678,770	D458G	possibly damaging	Het
Zfp472	T	A	17: 32,977,978	C342*	probably null	Het
Zfp963	A	T	8: 69,744,187		probably benign	Het

Other mutations in Shcbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Shcbp1	APN	8	4754258	nonsense	probably null
IGL01330:Shcbp1	APN	8	4736372	missense	probably benign	0.00
IGL01878:Shcbp1	APN	8	4749721	missense	probably damaging	0.98
IGL02415:Shcbp1	APN	8	4754239	missense	possibly damaging	0.93
IGL02559:Shcbp1	APN	8	4749305	missense	probably damaging	0.98
IGL03171:Shcbp1	APN	8	4739166	missense	probably benign	0.05
IGL03348:Shcbp1	APN	8	4765089	missense	probably benign	0.10
R0102:Shcbp1	UTSW	8	4744452	missense	probably damaging	1.00
R0102:Shcbp1	UTSW	8	4744452	missense	probably damaging	1.00
R0729:Shcbp1	UTSW	8	4736297	missense	probably benign	0.05
R0743:Shcbp1	UTSW	8	4764906	missense	probably benign
R1413:Shcbp1	UTSW	8	4741968	critical splice acceptor site	probably null
R1645:Shcbp1	UTSW	8	4749645	missense	probably benign	0.00
R3778:Shcbp1	UTSW	8	4736295	missense	probably benign	0.01
R4066:Shcbp1	UTSW	8	4748716	missense	probably damaging	0.98
R4232:Shcbp1	UTSW	8	4736372	missense	probably benign	0.06
R4524:Shcbp1	UTSW	8	4739193	missense	probably damaging	1.00
R4552:Shcbp1	UTSW	8	4749779	nonsense	probably null
R4623:Shcbp1	UTSW	8	4739178	missense	probably damaging	1.00
R4748:Shcbp1	UTSW	8	4744512	missense	probably damaging	1.00
R5093:Shcbp1	UTSW	8	4739214	missense	possibly damaging	0.68
R5152:Shcbp1	UTSW	8	4736138	missense	probably damaging	1.00
R5540:Shcbp1	UTSW	8	4744529	missense	probably damaging	1.00
R5758:Shcbp1	UTSW	8	4749355	splice site	probably null
R5878:Shcbp1	UTSW	8	4748742	missense	probably benign	0.04
R6062:Shcbp1	UTSW	8	4764905	missense	probably benign	0.13
R6366:Shcbp1	UTSW	8	4749380	missense	probably damaging	1.00
R6394:Shcbp1	UTSW	8	4736176	missense	probably damaging	0.99
R6513:Shcbp1	UTSW	8	4744507	missense	probably benign
R6696:Shcbp1	UTSW	8	4739262	missense	probably damaging	1.00
R7014:Shcbp1	UTSW	8	4754234	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4741876	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4754310	missense	probably damaging	1.00
R7420:Shcbp1	UTSW	8	4748737	missense	probably benign	0.02
R7710:Shcbp1	UTSW	8	4764965	missense	probably benign	0.14
R7720:Shcbp1	UTSW	8	4748720	missense	probably damaging	1.00
R7756:Shcbp1	UTSW	8	4744545	missense	probably damaging	0.97
R7769:Shcbp1	UTSW	8	4739232	missense	probably damaging	1.00
R7943:Shcbp1	UTSW	8	4748812	missense	possibly damaging	0.78
R8114:Shcbp1	UTSW	8	4767930	missense	probably damaging	1.00
R8386:Shcbp1	UTSW	8	4767951	missense	probably damaging	1.00
R8435:Shcbp1	UTSW	8	4748734	missense	probably benign	0.04
X0062:Shcbp1	UTSW	8	4739249	missense	probably damaging	0.99
Z1176:Shcbp1	UTSW	8	4765056	missense	possibly damaging	0.59
Z1177:Shcbp1	UTSW	8	4736146	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATTGGGGATCAAAGGTTCGACACT -3'
(R):5'- ACACGTTGTTAGCTGCCTGTCAC -3'

Sequencing Primer
(F):5'- TGACAGGCACAGGTTGTTGAG -3'
(R):5'- atccgcctgtctctgcc -3'

Posted On

2014-04-24