Mutagenetix > Incidental Mutation

Incidental Mutation 'R9234:Shcbp1'

700985

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 #

R9234 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4785976-4829549 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4798800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 373 (I373K)

Ref Sequence

ENSEMBL: ENSMUSP00000022945 (fasta)

Gene Model

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

AlphaFold

Q9Z179

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022945
AA Change: I373K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: I373K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,798 (GRCm39)	Y20H	probably benign	Het
Arid5b	A	G	10: 67,964,628 (GRCm39)	F348L	possibly damaging	Het
Bms1	C	A	6: 118,375,044 (GRCm39)	A777S	probably damaging	Het
C2cd3	A	G	7: 100,049,012 (GRCm39)	Y61C		Het
Caprin2	A	T	6: 148,744,337 (GRCm39)	Y1029*	probably null	Het
Casp1	A	T	9: 5,303,128 (GRCm39)	D194V	probably benign	Het
Crkl	A	G	16: 17,286,822 (GRCm39)	E126G	probably damaging	Het
Crp	A	T	1: 172,526,413 (GRCm39)	D166V	probably damaging	Het
Dnah10	A	C	5: 124,818,989 (GRCm39)	D425A	possibly damaging	Het
Dnah11	A	T	12: 117,951,095 (GRCm39)	L3071Q	probably damaging	Het
Dnah9	T	A	11: 65,924,751 (GRCm39)	I2168F	possibly damaging	Het
Elp3	T	A	14: 65,788,920 (GRCm39)	I388F	probably damaging	Het
Espn	C	A	4: 152,217,380 (GRCm39)		probably null	Het
Fbrsl1	G	T	5: 110,511,250 (GRCm39)	F504L	probably benign	Het
Fzd9	A	C	5: 135,279,540 (GRCm39)	M115R	probably damaging	Het
Git2	A	T	5: 114,899,682 (GRCm39)	Y224N	possibly damaging	Het
Gm9195	A	T	14: 72,695,786 (GRCm39)	Y1415*	probably null	Het
Gnpat	T	A	8: 125,610,179 (GRCm39)	L454Q	probably damaging	Het
Grm5	C	T	7: 87,723,440 (GRCm39)	P577S	probably damaging	Het
Hfm1	T	C	5: 107,041,334 (GRCm39)	N683S	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Leng8	C	A	7: 4,145,247 (GRCm39)	P216T	probably damaging	Het
Letm2	C	A	8: 26,084,102 (GRCm39)	R43L	probably benign	Het
Lims2	A	T	18: 32,090,943 (GRCm39)	Y309F	probably benign	Het
Llgl1	T	C	11: 60,600,956 (GRCm39)		probably null	Het
Ltn1	A	T	16: 87,194,089 (GRCm39)	D1417E	probably damaging	Het
Map4k4	T	A	1: 40,029,261 (GRCm39)	N345K	unknown	Het
Mapre2	T	C	18: 23,937,236 (GRCm39)	I26T	probably benign	Het
Nfe2	A	G	15: 103,159,636 (GRCm39)		probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Ntrk1	A	G	3: 87,695,622 (GRCm39)		probably null	Het
Or51b6b	T	A	7: 103,309,950 (GRCm39)	Y169F	possibly damaging	Het
Or52e18	A	G	7: 104,609,651 (GRCm39)	F96S	probably damaging	Het
Or5h19	T	C	16: 58,856,789 (GRCm39)	N104D	probably benign	Het
Otud7b	G	T	3: 96,047,771 (GRCm39)	Q43H	probably damaging	Het
Pcdhb5	T	C	18: 37,453,695 (GRCm39)	V25A	probably benign	Het
Pcolce2	A	G	9: 95,560,439 (GRCm39)	T163A	probably benign	Het
Pdgfra	T	A	5: 75,324,262 (GRCm39)	V39E	possibly damaging	Het
Pdgfrb	T	A	18: 61,194,300 (GRCm39)	W26R	probably null	Het
Pigp	T	A	16: 94,165,522 (GRCm39)	*206Y	probably null	Het
Pip5kl1	G	T	2: 32,468,211 (GRCm39)	G126C	probably benign	Het
Plekhg2	G	T	7: 28,064,215 (GRCm39)	T442K	probably benign	Het
Prmt5	A	T	14: 54,748,674 (GRCm39)	S375T	possibly damaging	Het
Rnf213	T	A	11: 119,340,943 (GRCm39)	M3529K		Het
Ror2	C	A	13: 53,265,374 (GRCm39)	D573Y	probably damaging	Het
Shank1	A	G	7: 43,962,579 (GRCm39)	T98A	unknown	Het
Slc25a42	A	G	8: 70,642,736 (GRCm39)	S64P	probably damaging	Het
Smco3	T	A	6: 136,808,410 (GRCm39)	I155F	probably damaging	Het
Snx4	C	A	16: 33,087,161 (GRCm39)	S102*	probably null	Het
Snx4	T	A	16: 33,108,069 (GRCm39)	S288T	probably benign	Het
Socs4	A	G	14: 47,527,716 (GRCm39)	N217S	probably benign	Het
Tatdn2	G	A	6: 113,679,683 (GRCm39)		probably null	Het
Tmprss2	A	G	16: 97,379,821 (GRCm39)	Y160H	probably damaging	Het
Trim37	T	C	11: 87,036,393 (GRCm39)	I158T	possibly damaging	Het
Trip11	C	T	12: 101,811,990 (GRCm39)		probably null	Het
Ubr3	G	A	2: 69,727,990 (GRCm39)	A118T	probably benign	Het
Ubxn7	T	C	16: 32,178,895 (GRCm39)		probably null	Het
Unc5cl	C	T	17: 48,770,658 (GRCm39)	H369Y	probably damaging	Het
Unc5d	A	T	8: 29,250,877 (GRCm39)	N263K	probably damaging	Het
Vmn2r59	A	G	7: 41,661,907 (GRCm39)	I636T	possibly damaging	Het
Vps13d	G	T	4: 144,875,792 (GRCm39)	Q1578K		Het
Wnk2	T	C	13: 49,224,274 (GRCm39)	D1171G	probably damaging	Het
Zfpm2	A	G	15: 40,966,470 (GRCm39)	Y985C	probably damaging	Het
Zpbp2	A	T	11: 98,443,398 (GRCm39)	N77I	probably damaging	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
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'- ATTCATTCTTGGCGCTAATCACG -3'
(R):5'- GTGACAAGCACACAACTGAG -3'

Sequencing Primer
(F):5'- TTGGCGCTAATCACGACCAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2022-03-25