Mutagenetix > Incidental Mutation

Incidental Mutation 'R5093:Shcbp1'

387930

Institutional Source

Beutler Lab

Gene Symbol

Shcbp1

Ensembl Gene

ENSMUSG00000022322

Gene Name

Shc SH2-domain binding protein 1

Synonyms

mPAL

MMRRC Submission

042682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4785976-4829549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4789214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 535 (V535A)

Ref Sequence

ENSEMBL: ENSMUSP00000022945 (fasta)

Gene Model

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

AlphaFold

Q9Z179

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022945
AA Change: V535A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: V535A

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

noncoding transcript
Transcript: ENSMUST00000207665

Predicted Effect

probably benign
Transcript: ENSMUST00000207876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208856

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

99% (90/91)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,610,573 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,032,358 (GRCm39)	L753Q	probably damaging	Het
Acvrl1	A	G	15: 101,032,628 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,740,704 (GRCm39)	N141K	probably damaging	Het
Aftph	C	T	11: 20,659,619 (GRCm39)		probably null	Het
Aifm1	C	T	X: 47,571,637 (GRCm39)	G371S	probably benign	Het
Aldh3b2	A	G	19: 4,029,433 (GRCm39)	M269V	probably benign	Het
Ankrd44	T	C	1: 54,802,877 (GRCm39)	Y207C	probably damaging	Het
Arhgap15	G	T	2: 44,212,767 (GRCm39)	M412I	probably damaging	Het
Auts2	A	C	5: 131,468,296 (GRCm39)	L783R	probably damaging	Het
Baiap2l1	A	T	5: 144,215,363 (GRCm39)	Y381N	probably damaging	Het
Baiap3	T	C	17: 25,469,243 (GRCm39)	D180G	probably damaging	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Catsperg2	T	C	7: 29,416,423 (GRCm39)	S330G	probably benign	Het
Ccdc73	A	T	2: 104,848,111 (GRCm39)		probably benign	Het
Cdc5l	A	T	17: 45,703,967 (GRCm39)	F752L	possibly damaging	Het
Celsr2	G	T	3: 108,320,689 (GRCm39)	H708N	possibly damaging	Het
Cep170	T	A	1: 176,596,896 (GRCm39)	K487M	possibly damaging	Het
Cerkl	A	T	2: 79,163,867 (GRCm39)	N66K	probably damaging	Het
Cilk1	G	A	9: 78,047,303 (GRCm39)	V68I	probably benign	Het
Clec11a	C	T	7: 43,954,150 (GRCm39)	A268T	probably damaging	Het
Ctnna2	C	A	6: 77,091,912 (GRCm39)		probably null	Het
Diaph3	C	A	14: 87,222,236 (GRCm39)	R416L	probably damaging	Het
Dnmbp	T	A	19: 43,838,315 (GRCm39)	N1170I	probably damaging	Het
Erbb2	G	T	11: 98,318,279 (GRCm39)	C505F	probably damaging	Het
Ercc6	T	A	14: 32,289,479 (GRCm39)	F904L	probably damaging	Het
Exo5	C	T	4: 120,779,514 (GRCm39)	G117D	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Fbxl5	A	G	5: 43,930,896 (GRCm39)	Y64H	probably damaging	Het
Gabra4	T	A	5: 71,798,207 (GRCm39)	M207L	probably damaging	Het
Galnt15	T	C	14: 31,771,786 (GRCm39)	L277P	probably damaging	Het
Gclm	T	C	3: 122,049,261 (GRCm39)		probably null	Het
Gm5493	T	A	17: 22,966,201 (GRCm39)	C29S	possibly damaging	Het
Grik3	A	G	4: 125,564,382 (GRCm39)	T455A	probably benign	Het
Grm3	A	G	5: 9,639,766 (GRCm39)	V93A	probably benign	Het
Hdgfl2	C	T	17: 56,406,217 (GRCm39)	A535V	possibly damaging	Het
Hfm1	A	T	5: 107,049,597 (GRCm39)	S455T	probably damaging	Het
Hmcn1	T	A	1: 150,613,007 (GRCm39)	D1424V	probably benign	Het
Hsd3b6	C	T	3: 98,715,120 (GRCm39)	V91I	probably benign	Het
Igdcc4	G	A	9: 65,030,039 (GRCm39)	S363N	possibly damaging	Het
Intu	T	C	3: 40,647,347 (GRCm39)	V740A	probably benign	Het
Itga2	C	T	13: 114,992,717 (GRCm39)	V838I	probably benign	Het
Kif9	A	G	9: 110,318,965 (GRCm39)	E143G	probably damaging	Het
Kmt2c	T	A	5: 25,614,205 (GRCm39)	I172F	probably benign	Het
Kmt2d	G	A	15: 98,754,043 (GRCm39)	R21W	probably damaging	Het
Mdh1b	A	T	1: 63,750,620 (GRCm39)	D449E	probably benign	Het
Meis1	T	C	11: 18,831,785 (GRCm39)	I418V	probably benign	Het
Nags	T	A	11: 102,037,395 (GRCm39)	M162K	probably damaging	Het
Nufip1	A	G	14: 76,348,413 (GRCm39)	D14G	probably benign	Het
Or2l13	T	A	16: 19,306,227 (GRCm39)	I213N	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or7g28	T	G	9: 19,272,274 (GRCm39)	I126L	probably damaging	Het
Osmr	A	C	15: 6,850,560 (GRCm39)	V681G	probably damaging	Het
Paxip1	G	T	5: 27,971,282 (GRCm39)	Q356K	unknown	Het
Pcdhac1	T	A	18: 37,223,595 (GRCm39)	F136Y	probably damaging	Het
Pla2g6	A	G	15: 79,171,328 (GRCm39)	V699A	probably benign	Het
Plcb3	A	T	19: 6,943,578 (GRCm39)	V107E	probably damaging	Het
Plch1	T	A	3: 63,681,136 (GRCm39)	I164F	probably damaging	Het
Plpp3	A	T	4: 105,052,077 (GRCm39)	I73F	probably damaging	Het
Plscr5	G	A	9: 92,080,574 (GRCm39)	R20Q	probably benign	Het
Prdm10	G	A	9: 31,252,779 (GRCm39)	R504Q	probably damaging	Het
Prss58	T	C	6: 40,874,751 (GRCm39)	Y30C	probably damaging	Het
Psg19	T	A	7: 18,530,894 (GRCm39)	T87S	probably benign	Het
Ptpn22	T	G	3: 103,789,418 (GRCm39)	M294R	probably benign	Het
Rai1	T	A	11: 60,079,482 (GRCm39)	M1182K	probably benign	Het
Sez6	T	A	11: 77,867,388 (GRCm39)	V795D	possibly damaging	Het
Skint9	A	G	4: 112,246,447 (GRCm39)	Y222H	probably benign	Het
Slc13a3	T	A	2: 165,253,816 (GRCm39)	I446F	probably damaging	Het
Slc2a3	C	T	6: 122,714,196 (GRCm39)	R57H	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Spata31d1b	A	T	13: 59,863,838 (GRCm39)	N329Y	possibly damaging	Het
Strbp	C	T	2: 37,517,499 (GRCm39)	R192K	probably damaging	Het
Tctn3	A	T	19: 40,600,548 (GRCm39)	L14Q	probably damaging	Het
Tenm2	T	A	11: 36,834,989 (GRCm39)	D2V	probably damaging	Het
Tln2	T	G	9: 67,241,596 (GRCm39)	K1003T	probably benign	Het
Tmem63b	T	C	17: 45,971,800 (GRCm39)	E805G	probably damaging	Het
Trhr	A	T	15: 44,060,980 (GRCm39)	N167Y	probably damaging	Het
Trpc2	A	G	7: 101,744,390 (GRCm39)	R721G	probably benign	Het
Ttn	C	A	2: 76,701,267 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,869,288 (GRCm39)	I412T	probably damaging	Het
Zcchc4	T	A	5: 52,953,952 (GRCm39)	S211T	probably benign	Het

Other mutations in Shcbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Shcbp1	APN	8	4,804,258 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCATCAGAATTTGGTGCTG -3'
(R):5'- TCCATCACTGCAAGGAAGG -3'

Sequencing Primer
(F):5'- CATCAGAATTTGGTGCTGAAATAGAG -3'
(R):5'- TCACTGCAAGGAAGGAATTCTC -3'

Posted On

2016-06-06