Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03062:Sh3tc2'

409517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

Accession Numbers

Genbank: NM_172628

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

61953075-62015715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62011880 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1135 (E1135V)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051720]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051720
AA Change: E1135V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: E1135V

Domain	Start	End	E-Value	Type
coiled coil region	75	101	N/A	INTRINSIC
SH3	179	238	1.02e0	SMART
SH3	270	329	6.76e-5	SMART
low complexity region	414	425	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	486	503	N/A	INTRINSIC
TPR	529	562	3.24e1	SMART
low complexity region	568	581	N/A	INTRINSIC
TPR	837	870	2.66e0	SMART
Blast:TPR	877	910	2e-7	BLAST
low complexity region	1011	1025	N/A	INTRINSIC
Blast:TPR	1045	1078	1e-12	BLAST
Blast:TPR	1127	1158	3e-7	BLAST
TPR	1167	1200	1.04e-2	SMART
Blast:TPR	1211	1235	5e-7	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(3)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,038,517		probably benign	Het
Abcb10	C	T	8: 123,954,315	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,936,087	I282L	probably benign	Het
Aox1	A	T	1: 58,078,465	E835D	probably benign	Het
Arhgap17	C	T	7: 123,321,874		probably null	Het
Calcr	C	T	6: 3,693,718	V359I	probably benign	Het
Chd9	T	A	8: 91,015,267		probably benign	Het
Col28a1	T	C	6: 8,017,029		probably benign	Het
Dnajc11	A	G	4: 151,970,861	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,264,684	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,993,077		probably null	Het
Fam98a	A	G	17: 75,540,105		probably benign	Het
Ficd	A	G	5: 113,738,253	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,506,804	S66P	probably damaging	Het
Fmo5	A	G	3: 97,635,593	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566	R574S	possibly damaging	Het
Klc3	C	A	7: 19,395,062	G461W	probably damaging	Het
Lmo7	A	T	14: 101,912,079	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,311,910	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,718,304	V127A	probably benign	Het
Lyrm1	T	C	7: 119,916,131		probably benign	Het
Med28	G	A	5: 45,522,469	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,388,461	Y179H	probably damaging	Het
Micall1	A	C	15: 79,114,681	N58T	probably damaging	Het
Ncoa4	T	A	14: 32,173,420	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,248,933	Q879R	probably benign	Het
Olfr1428	C	T	19: 12,109,148	V133I	probably benign	Het
Olfr870	T	A	9: 20,171,167	I135F	probably damaging	Het
Olfr965	T	A	9: 39,720,035	D269E	probably benign	Het
Phf11b	T	C	14: 59,324,924	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,714,707	I27L	probably benign	Het
Plxna2	T	C	1: 194,762,550	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,510,039	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,732,304	G744*	probably null	Het
Rsbn1	C	A	3: 103,953,629		probably benign	Het
Sars2	T	A	7: 28,746,781	I145N	possibly damaging	Het
Shroom1	A	G	11: 53,463,379	D42G	probably benign	Het
Sidt2	A	G	9: 45,942,683		probably null	Het
Slc39a8	T	C	3: 135,886,797		probably benign	Het
Slc9c1	T	C	16: 45,599,758	S1059P	probably benign	Het
Socs6	A	T	18: 88,869,846	M315K	probably benign	Het
Soga3	T	A	10: 29,198,949	F911Y	probably damaging	Het
Speer2	T	C	16: 69,857,977	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,624,182		probably null	Het
Tmbim1	A	T	1: 74,291,699	I168N	possibly damaging	Het
Trim38	T	C	13: 23,782,963	V131A	probably damaging	Het
Ube2o	A	G	11: 116,541,642	S833P	probably damaging	Het
Uggt2	T	C	14: 119,075,346	I350M	probably damaging	Het
Unc80	A	G	1: 66,509,489	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,156,282	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,632,428	C193Y	probably damaging	Het

Other mutations in Sh3tc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Sh3tc2	APN	18	61989511	missense	probably damaging	1.00
IGL01523:Sh3tc2	APN	18	61990883	missense	probably benign	0.00
IGL02036:Sh3tc2	APN	18	62014907	missense	probably benign	0.17
IGL02189:Sh3tc2	APN	18	61990622	missense	probably benign	0.00
IGL02555:Sh3tc2	APN	18	61990237	missense	probably damaging	0.99
IGL02827:Sh3tc2	APN	18	62013159	missense	probably benign	0.34
IGL03033:Sh3tc2	APN	18	61974478	missense	possibly damaging	0.90
IGL03040:Sh3tc2	APN	18	61989410	missense	probably benign	0.00
IGL03386:Sh3tc2	APN	18	61973311	missense	probably benign	0.39
3-1:Sh3tc2	UTSW	18	61991138	missense	probably damaging	1.00
R1085:Sh3tc2	UTSW	18	62014996	missense	probably benign	0.01
R1166:Sh3tc2	UTSW	18	61991176	missense	probably damaging	0.99
R1182:Sh3tc2	UTSW	18	61968100	missense	probably benign	0.17
R1521:Sh3tc2	UTSW	18	62008488	missense	probably damaging	0.96
R1636:Sh3tc2	UTSW	18	61989721	missense	probably damaging	0.98
R1872:Sh3tc2	UTSW	18	62011883	missense	probably damaging	1.00
R1884:Sh3tc2	UTSW	18	62008575	missense	probably damaging	1.00
R1964:Sh3tc2	UTSW	18	61991155	nonsense	probably null
R2034:Sh3tc2	UTSW	18	61987666	missense	probably damaging	1.00
R2046:Sh3tc2	UTSW	18	61990843	missense	probably benign
R2113:Sh3tc2	UTSW	18	62013105	missense	probably damaging	1.00
R2363:Sh3tc2	UTSW	18	61990895	missense	probably benign	0.07
R2940:Sh3tc2	UTSW	18	61989686	missense	probably damaging	1.00
R2979:Sh3tc2	UTSW	18	61989485	missense	probably damaging	1.00
R3717:Sh3tc2	UTSW	18	61990343	missense	probably benign	0.04
R3718:Sh3tc2	UTSW	18	61990343	missense	probably benign	0.04
R4334:Sh3tc2	UTSW	18	61990321	missense	probably damaging	1.00
R4454:Sh3tc2	UTSW	18	62007773	missense	probably damaging	1.00
R4503:Sh3tc2	UTSW	18	61974623	missense	probably damaging	0.96
R4515:Sh3tc2	UTSW	18	61987693	splice site	probably null
R4659:Sh3tc2	UTSW	18	61974509	missense	probably benign	0.00
R4859:Sh3tc2	UTSW	18	62013093	missense	probably benign	0.00
R4901:Sh3tc2	UTSW	18	61990435	missense	probably benign	0.03
R5033:Sh3tc2	UTSW	18	62014891	splice site	probably null
R5269:Sh3tc2	UTSW	18	61975613	missense	probably benign	0.00
R5439:Sh3tc2	UTSW	18	61989633	nonsense	probably null
R5467:Sh3tc2	UTSW	18	61990688	missense	possibly damaging	0.81
R5468:Sh3tc2	UTSW	18	61973431	critical splice donor site	probably null
R5527:Sh3tc2	UTSW	18	62011861	missense	probably benign	0.00
R5829:Sh3tc2	UTSW	18	61990915	missense	probably benign	0.19
R5880:Sh3tc2	UTSW	18	61973311	missense	probably benign	0.39
R5948:Sh3tc2	UTSW	18	62013105	missense	probably damaging	1.00
R5951:Sh3tc2	UTSW	18	61990007	missense	probably damaging	1.00
R5973:Sh3tc2	UTSW	18	61977904	missense	probably benign	0.06
R5995:Sh3tc2	UTSW	18	61990010	missense	probably damaging	0.96
R6309:Sh3tc2	UTSW	18	61968010	missense	probably damaging	0.98
R6339:Sh3tc2	UTSW	18	61975571	nonsense	probably null
R6648:Sh3tc2	UTSW	18	62015040	missense	probably benign	0.00
R6723:Sh3tc2	UTSW	18	61977954	missense	probably damaging	1.00
R6752:Sh3tc2	UTSW	18	61961037	missense	probably benign	0.00
R7211:Sh3tc2	UTSW	18	61989403	missense	probably benign
R7367:Sh3tc2	UTSW	18	61989506	missense	probably benign	0.00
R7664:Sh3tc2	UTSW	18	62014971	nonsense	probably null
R7727:Sh3tc2	UTSW	18	61989580	missense	probably benign	0.02
R7823:Sh3tc2	UTSW	18	61953117	start codon destroyed	probably null	1.00
Z1176:Sh3tc2	UTSW	18	61989909	nonsense	probably null
Z1177:Sh3tc2	UTSW	18	61989688	missense	probably damaging	1.00
Z1177:Sh3tc2	UTSW	18	61991318	missense	probably benign	0.09
Z1177:Sh3tc2	UTSW	18	62014991	missense	probably damaging	0.96

Posted On

2016-08-02