Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Shcbp1'

292386

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 #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

4735976-4779567 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4754239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 224 (V224I)

Ref Sequence

ENSEMBL: ENSMUSP00000022945 (fasta)

Gene Model

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

AlphaFold

Q9Z179

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022945
AA Change: V224I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: V224I

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

unknown
Transcript: ENSMUST00000207262
AA Change: V152I

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	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
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
R1630:Shcbp1	UTSW	8	4748763	nonsense	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
R9234:Shcbp1	UTSW	8	4748800	missense	possibly damaging	0.77
R9313:Shcbp1	UTSW	8	4744518	missense	probably damaging	1.00
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

Posted On

2015-04-16