Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Shcbp1'

1419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shcbp1

Ensembl Gene

ENSMUSG00000022322

Gene Name

Shc SH2-domain binding protein 1

Synonyms

mPAL

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

4785976-4829549 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 4804258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 145 (Y145*)

Gene Model

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

AlphaFold

Q9Z179

Predicted Effect

probably null
Transcript: ENSMUST00000022945
AA Change: Y217*

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: Y217*

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 null
Transcript: ENSMUST00000207262
AA Change: Y145*

Predicted Effect

probably benign
Transcript: ENSMUST00000207876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208856

Coding Region Coverage

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,591,254 (GRCm39)	N547K	probably benign	Het
Abca13	A	G	11: 9,247,443 (GRCm39)	T2397A	probably benign	Het
Abcc1	A	G	16: 14,288,398 (GRCm39)	N1341S	probably null	Het
Adcy9	T	A	16: 4,122,446 (GRCm39)	I535L	probably benign	Het
Akap6	A	G	12: 53,187,763 (GRCm39)	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,577,813 (GRCm39)	M5V	probably benign	Het
Ash1l	T	A	3: 88,889,019 (GRCm39)	N299K	probably benign	Het
B3gnt2	C	T	11: 22,786,151 (GRCm39)	V346I	probably benign	Het
Ceacam14	G	A	7: 17,548,062 (GRCm39)	V51I	probably damaging	Het
Cfap69	T	C	5: 5,634,682 (GRCm39)	D812G	probably damaging	Het
Cfap97d1	A	G	11: 101,881,646 (GRCm39)	E114G	possibly damaging	Het
Chrna9	T	C	5: 66,126,600 (GRCm39)	V118A	probably benign	Het
Cpsf7	A	G	19: 10,517,151 (GRCm39)	R418G	probably damaging	Het
Csnk1g3	T	C	18: 54,052,075 (GRCm39)	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,386,097 (GRCm39)	N676K	probably benign	Het
Dld	A	T	12: 31,385,576 (GRCm39)	M255K	probably benign	Het
Esr2	A	T	12: 76,180,670 (GRCm39)	L417H	probably damaging	Het
Fsip2	T	A	2: 82,820,730 (GRCm39)	S5488T	probably benign	Het
Gatb	A	T	3: 85,509,227 (GRCm39)	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,229,130 (GRCm39)	K506E	probably benign	Het
Hkdc1	T	C	10: 62,229,568 (GRCm39)	N703S	probably damaging	Het
Itgb3	T	A	11: 104,524,410 (GRCm39)	V182E	probably damaging	Het
Itih4	A	T	14: 30,617,426 (GRCm39)	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,701,522 (GRCm39)		probably benign	Het
Lgals3	A	G	14: 47,622,175 (GRCm39)	K197R	probably benign	Het
Lipe	T	C	7: 25,082,977 (GRCm39)	T767A	probably damaging	Het
Lrp2	T	A	2: 69,338,123 (GRCm39)	D1219V	probably damaging	Het
Lrriq3	T	A	3: 154,806,698 (GRCm39)	C116S	probably benign	Het
Mcm5	T	G	8: 75,851,573 (GRCm39)		probably null	Het
Mtpn	G	T	6: 35,499,711 (GRCm39)	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,460,486 (GRCm39)	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,274,350 (GRCm39)	E498*	probably null	Het
Nos1	T	G	5: 118,048,165 (GRCm39)	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,561,661 (GRCm39)		probably null	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or13a17	A	T	7: 140,271,349 (GRCm39)	H177L	probably damaging	Het
Or4c127	T	A	2: 89,833,365 (GRCm39)	I205N	possibly damaging	Het
Or7g32	T	A	9: 19,408,155 (GRCm39)	I37N	probably damaging	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Or8s8	T	G	15: 98,354,299 (GRCm39)	V36G	possibly damaging	Het
Or9i1	A	T	19: 13,839,150 (GRCm39)		probably benign	Het
Osbp2	T	G	11: 3,661,848 (GRCm39)	S735R	probably benign	Het
Otop3	A	T	11: 115,235,279 (GRCm39)	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,278,128 (GRCm39)	L369F	probably damaging	Het
Pick1	T	C	15: 79,131,457 (GRCm39)		probably benign	Het
Prlhr	A	T	19: 60,456,119 (GRCm39)	V149E	probably damaging	Het
Prss12	G	A	3: 123,280,598 (GRCm39)		probably benign	Het
Rab19	A	T	6: 39,365,132 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,262,776 (GRCm39)	W5R	probably damaging	Het
Rfx4	T	A	10: 84,676,063 (GRCm39)	L44Q	probably damaging	Het
Scube2	T	C	7: 109,407,661 (GRCm39)	T760A	probably damaging	Het
Snx31	T	A	15: 36,545,761 (GRCm39)		probably null	Het
Spopl	A	T	2: 23,427,643 (GRCm39)	V163E	possibly damaging	Het
Sqor	T	C	2: 122,629,463 (GRCm39)	I107T	probably damaging	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,238 (GRCm39)	H121L	probably damaging	Het
Tnip1	G	T	11: 54,831,643 (GRCm39)	Y10*	probably null	Het
Tnxb	G	T	17: 34,904,603 (GRCm39)	G1123C	probably damaging	Het
Wdr62	T	C	7: 29,942,948 (GRCm39)	E515G	probably benign	Het
Zfand1	A	T	3: 10,413,590 (GRCm39)	D32E	probably null	Het
Zfp112	A	C	7: 23,821,668 (GRCm39)	T3P	probably damaging	Het

Other mutations in Shcbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Shcbp1	APN	8	4,786,372 (GRCm39)	missense	probably benign	0.00
IGL01878:Shcbp1	APN	8	4,799,721 (GRCm39)	missense	probably damaging	0.98
IGL02415:Shcbp1	APN	8	4,804,239 (GRCm39)	missense	possibly damaging	0.93
IGL02559:Shcbp1	APN	8	4,799,305 (GRCm39)	missense	probably damaging	0.98
IGL03171:Shcbp1	APN	8	4,789,166 (GRCm39)	missense	probably benign	0.05
IGL03348:Shcbp1	APN	8	4,815,089 (GRCm39)	missense	probably benign	0.10
R0102:Shcbp1	UTSW	8	4,794,452 (GRCm39)	missense	probably damaging	1.00
R0102:Shcbp1	UTSW	8	4,794,452 (GRCm39)	missense	probably damaging	1.00
R0729:Shcbp1	UTSW	8	4,786,297 (GRCm39)	missense	probably benign	0.05
R0743:Shcbp1	UTSW	8	4,814,906 (GRCm39)	missense	probably benign
R1413:Shcbp1	UTSW	8	4,791,968 (GRCm39)	critical splice acceptor site	probably null
R1630:Shcbp1	UTSW	8	4,798,763 (GRCm39)	nonsense	probably null
R1645:Shcbp1	UTSW	8	4,799,645 (GRCm39)	missense	probably benign	0.00
R3778:Shcbp1	UTSW	8	4,786,295 (GRCm39)	missense	probably benign	0.01
R4066:Shcbp1	UTSW	8	4,798,716 (GRCm39)	missense	probably damaging	0.98
R4232:Shcbp1	UTSW	8	4,786,372 (GRCm39)	missense	probably benign	0.06
R4524:Shcbp1	UTSW	8	4,789,193 (GRCm39)	missense	probably damaging	1.00
R4552:Shcbp1	UTSW	8	4,799,779 (GRCm39)	nonsense	probably null
R4623:Shcbp1	UTSW	8	4,789,178 (GRCm39)	missense	probably damaging	1.00
R4748:Shcbp1	UTSW	8	4,794,512 (GRCm39)	missense	probably damaging	1.00
R5093:Shcbp1	UTSW	8	4,789,214 (GRCm39)	missense	possibly damaging	0.68
R5152:Shcbp1	UTSW	8	4,786,138 (GRCm39)	missense	probably damaging	1.00
R5540:Shcbp1	UTSW	8	4,794,529 (GRCm39)	missense	probably damaging	1.00
R5758:Shcbp1	UTSW	8	4,799,355 (GRCm39)	splice site	probably null
R5878:Shcbp1	UTSW	8	4,798,742 (GRCm39)	missense	probably benign	0.04
R6062:Shcbp1	UTSW	8	4,814,905 (GRCm39)	missense	probably benign	0.13
R6366:Shcbp1	UTSW	8	4,799,380 (GRCm39)	missense	probably damaging	1.00
R6394:Shcbp1	UTSW	8	4,786,176 (GRCm39)	missense	probably damaging	0.99
R6513:Shcbp1	UTSW	8	4,794,507 (GRCm39)	missense	probably benign
R6696:Shcbp1	UTSW	8	4,789,262 (GRCm39)	missense	probably damaging	1.00
R7014:Shcbp1	UTSW	8	4,804,234 (GRCm39)	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4,804,310 (GRCm39)	missense	probably damaging	1.00
R7334:Shcbp1	UTSW	8	4,791,876 (GRCm39)	missense	probably damaging	1.00
R7420:Shcbp1	UTSW	8	4,798,737 (GRCm39)	missense	probably benign	0.02
R7710:Shcbp1	UTSW	8	4,814,965 (GRCm39)	missense	probably benign	0.14
R7720:Shcbp1	UTSW	8	4,798,720 (GRCm39)	missense	probably damaging	1.00
R7756:Shcbp1	UTSW	8	4,794,545 (GRCm39)	missense	probably damaging	0.97
R7769:Shcbp1	UTSW	8	4,789,232 (GRCm39)	missense	probably damaging	1.00
R7943:Shcbp1	UTSW	8	4,798,812 (GRCm39)	missense	possibly damaging	0.78
R8114:Shcbp1	UTSW	8	4,817,930 (GRCm39)	missense	probably damaging	1.00
R8386:Shcbp1	UTSW	8	4,817,951 (GRCm39)	missense	probably damaging	1.00
R8435:Shcbp1	UTSW	8	4,798,734 (GRCm39)	missense	probably benign	0.04
R9234:Shcbp1	UTSW	8	4,798,800 (GRCm39)	missense	possibly damaging	0.77
R9313:Shcbp1	UTSW	8	4,794,518 (GRCm39)	missense	probably damaging	1.00
X0062:Shcbp1	UTSW	8	4,789,249 (GRCm39)	missense	probably damaging	0.99
Z1176:Shcbp1	UTSW	8	4,815,056 (GRCm39)	missense	possibly damaging	0.59
Z1177:Shcbp1	UTSW	8	4,786,146 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12