Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:Shcbp1'

705717

Institutional Source

Beutler Lab

Gene Symbol

Shcbp1

Ensembl Gene

ENSMUSG00000022322

Gene Name

Shc SH2-domain binding protein 1

Synonyms

mPAL

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4785976-4829549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4794518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 425 (D425V)

Ref Sequence

ENSEMBL: ENSMUSP00000022945 (fasta)

Gene Model

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

AlphaFold

Q9Z179

Predicted Effect

probably damaging
Transcript: ENSMUST00000022945
AA Change: D425V

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

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: D425V

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: ENSMUST00000207876

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Aadat	G	A	8: 60,979,635 (GRCm39)	V166I	probably benign	Het
Abca17	C	T	17: 24,565,207 (GRCm39)	S75N	probably benign	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Atp5po	CTTTGACG	C	16: 91,723,804 (GRCm39)		probably null	Het
Atp5po	TTTGACGGT	TT	16: 91,723,805 (GRCm39)		probably null	Het
Car9	A	G	4: 43,507,180 (GRCm39)	E42G	probably benign	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Cep41	T	C	6: 30,680,345 (GRCm39)	K9R	probably null	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Ckm	A	G	7: 19,149,398 (GRCm39)	T141A	probably benign	Het
Clcc1	G	T	3: 108,581,976 (GRCm39)	R360S	probably benign	Het
Clcn3	A	C	8: 61,390,503 (GRCm39)	I146R	probably damaging	Het
Crlf1	A	G	8: 70,951,466 (GRCm39)	D115G	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dop1a	T	C	9: 86,406,641 (GRCm39)	*386Q	probably null	Het
Eftud2	A	G	11: 102,730,262 (GRCm39)	V899A	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Faap100	A	G	11: 120,267,688 (GRCm39)	S362P	probably damaging	Het
Fdps	A	T	3: 89,006,655 (GRCm39)	D78E	probably benign	Het
Fsd1l	T	G	4: 53,694,760 (GRCm39)	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093 (GRCm39)	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hsd17b13	A	G	5: 104,113,639 (GRCm39)		probably null	Het
Ift57	T	A	16: 49,557,085 (GRCm39)	D235E	possibly damaging	Het
Il22b	A	G	10: 118,130,138 (GRCm39)	C89R	probably damaging	Het
Iqcn	G	A	8: 71,161,353 (GRCm39)	G182D	probably damaging	Het
Krt9	T	A	11: 100,079,547 (GRCm39)	Y615F	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Mtus1	A	T	8: 41,535,923 (GRCm39)	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,463,436 (GRCm39)	R1265L	probably damaging	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or2m12	T	G	16: 19,105,100 (GRCm39)	Y131S	probably benign	Het
Or4x13	C	A	2: 90,231,917 (GRCm39)	T304K	probably benign	Het
Or5w11	T	C	2: 87,459,076 (GRCm39)	S90P	probably benign	Het
Or6c69b	A	T	10: 129,626,789 (GRCm39)	I223N	probably damaging	Het
Paqr8	G	A	1: 21,005,128 (GRCm39)	W94*	probably null	Het
Pkd1	G	A	17: 24,813,932 (GRCm39)	G4132D	probably damaging	Het
Pom121l2	A	G	13: 22,168,506 (GRCm39)	M926V	probably benign	Het
Postn	A	T	3: 54,273,336 (GRCm39)	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,893,182 (GRCm39)	E242G	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Rnf157	A	G	11: 116,250,718 (GRCm39)	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584 (GRCm39)	T150M	probably damaging	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,061,856 (GRCm39)	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,077,439 (GRCm39)	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,203 (GRCm39)	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454 (GRCm39)	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319 (GRCm39)	S375N	probably benign	Het
Tut7	A	T	13: 59,947,798 (GRCm39)	M841K	probably benign	Het
Vmn1r192	T	A	13: 22,372,191 (GRCm39)	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,686,817 (GRCm39)	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,347,322 (GRCm39)	A3188S	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp341	C	A	2: 154,469,907 (GRCm39)	P197T	probably damaging	Het
Zfp628	G	A	7: 4,922,549 (GRCm39)	R257H	probably benign	Het
Zfp644	T	G	5: 106,784,324 (GRCm39)	Y741S	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
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
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'- GCTATACGAGTTATTAATCTGCCTCC -3'
(R):5'- TGACCATGAAATCTTTCTTGCC -3'

Sequencing Primer
(F):5'- GTCGACTTTTCTCTCAAAGC -3'
(R):5'- GTGGACCTAGGCTACTCTACTCAG -3'

Posted On

2022-03-25