Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02555:Sh3tc2'

298456

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

62086002-62148790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62123308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 690 (A690S)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000051720
AA Change: A690S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: A690S

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,740,828 (GRCm39)	R199C	probably damaging	Het
Adam34l	A	T	8: 44,078,305 (GRCm39)	C640S	probably damaging	Het
Adam9	T	C	8: 25,456,752 (GRCm39)	N661D	probably damaging	Het
Amy1	C	T	3: 113,358,541 (GRCm39)	E164K	probably benign	Het
Arid5b	A	C	10: 67,937,734 (GRCm39)	D221E	probably benign	Het
B3galt1	G	T	2: 67,948,905 (GRCm39)	V207F	probably benign	Het
Begain	A	G	12: 109,000,115 (GRCm39)	S219P	probably damaging	Het
Clip1	A	G	5: 123,759,857 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,253,180 (GRCm39)	K1224R	probably benign	Het
Dnm1	A	G	2: 32,218,050 (GRCm39)	Y449H	probably damaging	Het
Epas1	A	T	17: 87,136,492 (GRCm39)	M755L	probably benign	Het
F13b	T	C	1: 139,444,924 (GRCm39)	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,016,863 (GRCm39)		probably null	Het
Ighv5-15	A	G	12: 113,790,735 (GRCm39)	F3L	probably benign	Het
Inpp4a	A	G	1: 37,419,049 (GRCm39)	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,721,124 (GRCm39)	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,153,616 (GRCm39)	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,192,053 (GRCm39)	H369Q	probably benign	Het
Ly6m	G	T	15: 74,753,457 (GRCm39)		probably benign	Het
Or1m1	T	A	9: 18,666,769 (GRCm39)	H54L	probably benign	Het
Or4a76	G	A	2: 89,460,547 (GRCm39)	R232C	probably damaging	Het
Or4k44	A	G	2: 111,368,262 (GRCm39)	V124A	probably damaging	Het
Or5m10	G	A	2: 85,717,742 (GRCm39)	M199I	probably benign	Het
Plxdc2	A	G	2: 16,734,152 (GRCm39)	I417M	probably benign	Het
Polr1a	G	A	6: 71,897,441 (GRCm39)	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,581,021 (GRCm39)	F134L	probably damaging	Het
Prox2	C	T	12: 85,142,034 (GRCm39)	W56*	probably null	Het
Scaf4	C	T	16: 90,047,193 (GRCm39)	A395T	unknown	Het
Slc34a1	T	C	13: 55,548,981 (GRCm39)	S144P	possibly damaging	Het
Slc6a6	C	T	6: 91,725,311 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,689,595 (GRCm39)	M557K	probably benign	Het
Vmn2r103	A	T	17: 20,031,873 (GRCm39)	D549V	probably damaging	Het
Washc2	T	A	6: 116,186,061 (GRCm39)	N90K	probably damaging	Het

Other mutations in Sh3tc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Sh3tc2	APN	18	62,122,582 (GRCm39)	missense	probably damaging	1.00
IGL01523:Sh3tc2	APN	18	62,123,954 (GRCm39)	missense	probably benign	0.00
IGL02036:Sh3tc2	APN	18	62,147,978 (GRCm39)	missense	probably benign	0.17
IGL02189:Sh3tc2	APN	18	62,123,693 (GRCm39)	missense	probably benign	0.00
IGL02827:Sh3tc2	APN	18	62,146,230 (GRCm39)	missense	probably benign	0.34
IGL03033:Sh3tc2	APN	18	62,107,549 (GRCm39)	missense	possibly damaging	0.90
IGL03040:Sh3tc2	APN	18	62,122,481 (GRCm39)	missense	probably benign	0.00
IGL03062:Sh3tc2	APN	18	62,144,951 (GRCm39)	missense	probably damaging	1.00
IGL03386:Sh3tc2	APN	18	62,106,382 (GRCm39)	missense	probably benign	0.39
3-1:Sh3tc2	UTSW	18	62,124,209 (GRCm39)	missense	probably damaging	1.00
R1085:Sh3tc2	UTSW	18	62,148,067 (GRCm39)	missense	probably benign	0.01
R1166:Sh3tc2	UTSW	18	62,124,247 (GRCm39)	missense	probably damaging	0.99
R1182:Sh3tc2	UTSW	18	62,101,171 (GRCm39)	missense	probably benign	0.17
R1521:Sh3tc2	UTSW	18	62,141,559 (GRCm39)	missense	probably damaging	0.96
R1636:Sh3tc2	UTSW	18	62,122,792 (GRCm39)	missense	probably damaging	0.98
R1872:Sh3tc2	UTSW	18	62,144,954 (GRCm39)	missense	probably damaging	1.00
R1884:Sh3tc2	UTSW	18	62,141,646 (GRCm39)	missense	probably damaging	1.00
R1964:Sh3tc2	UTSW	18	62,124,226 (GRCm39)	nonsense	probably null
R2034:Sh3tc2	UTSW	18	62,120,737 (GRCm39)	missense	probably damaging	1.00
R2046:Sh3tc2	UTSW	18	62,123,914 (GRCm39)	missense	probably benign
R2113:Sh3tc2	UTSW	18	62,146,176 (GRCm39)	missense	probably damaging	1.00
R2363:Sh3tc2	UTSW	18	62,123,966 (GRCm39)	missense	probably benign	0.07
R2940:Sh3tc2	UTSW	18	62,122,757 (GRCm39)	missense	probably damaging	1.00
R2979:Sh3tc2	UTSW	18	62,122,556 (GRCm39)	missense	probably damaging	1.00
R3717:Sh3tc2	UTSW	18	62,123,414 (GRCm39)	missense	probably benign	0.04
R3718:Sh3tc2	UTSW	18	62,123,414 (GRCm39)	missense	probably benign	0.04
R4334:Sh3tc2	UTSW	18	62,123,392 (GRCm39)	missense	probably damaging	1.00
R4454:Sh3tc2	UTSW	18	62,140,844 (GRCm39)	missense	probably damaging	1.00
R4503:Sh3tc2	UTSW	18	62,107,694 (GRCm39)	missense	probably damaging	0.96
R4515:Sh3tc2	UTSW	18	62,120,764 (GRCm39)	splice site	probably null
R4659:Sh3tc2	UTSW	18	62,107,580 (GRCm39)	missense	probably benign	0.00
R4859:Sh3tc2	UTSW	18	62,146,164 (GRCm39)	missense	probably benign	0.00
R4901:Sh3tc2	UTSW	18	62,123,506 (GRCm39)	missense	probably benign	0.03
R5033:Sh3tc2	UTSW	18	62,147,962 (GRCm39)	splice site	probably null
R5269:Sh3tc2	UTSW	18	62,108,684 (GRCm39)	missense	probably benign	0.00
R5439:Sh3tc2	UTSW	18	62,122,704 (GRCm39)	nonsense	probably null
R5467:Sh3tc2	UTSW	18	62,123,759 (GRCm39)	missense	possibly damaging	0.81
R5468:Sh3tc2	UTSW	18	62,106,502 (GRCm39)	critical splice donor site	probably null
R5527:Sh3tc2	UTSW	18	62,144,932 (GRCm39)	missense	probably benign	0.00
R5829:Sh3tc2	UTSW	18	62,123,986 (GRCm39)	missense	probably benign	0.19
R5880:Sh3tc2	UTSW	18	62,106,382 (GRCm39)	missense	probably benign	0.39
R5948:Sh3tc2	UTSW	18	62,146,176 (GRCm39)	missense	probably damaging	1.00
R5951:Sh3tc2	UTSW	18	62,123,078 (GRCm39)	missense	probably damaging	1.00
R5973:Sh3tc2	UTSW	18	62,110,975 (GRCm39)	missense	probably benign	0.06
R5995:Sh3tc2	UTSW	18	62,123,081 (GRCm39)	missense	probably damaging	0.96
R6309:Sh3tc2	UTSW	18	62,101,081 (GRCm39)	missense	probably damaging	0.98
R6339:Sh3tc2	UTSW	18	62,108,642 (GRCm39)	nonsense	probably null
R6648:Sh3tc2	UTSW	18	62,148,111 (GRCm39)	missense	probably benign	0.00
R6723:Sh3tc2	UTSW	18	62,111,025 (GRCm39)	missense	probably damaging	1.00
R6752:Sh3tc2	UTSW	18	62,094,108 (GRCm39)	missense	probably benign	0.00
R7211:Sh3tc2	UTSW	18	62,122,474 (GRCm39)	missense	probably benign
R7367:Sh3tc2	UTSW	18	62,122,577 (GRCm39)	missense	probably benign	0.00
R7664:Sh3tc2	UTSW	18	62,148,042 (GRCm39)	nonsense	probably null
R7727:Sh3tc2	UTSW	18	62,122,651 (GRCm39)	missense	probably benign	0.02
R7823:Sh3tc2	UTSW	18	62,086,188 (GRCm39)	start codon destroyed	probably null	1.00
R8191:Sh3tc2	UTSW	18	62,106,429 (GRCm39)	missense	probably damaging	1.00
R8204:Sh3tc2	UTSW	18	62,086,200 (GRCm39)	missense	probably damaging	1.00
R8219:Sh3tc2	UTSW	18	62,144,932 (GRCm39)	missense	probably benign	0.00
R8260:Sh3tc2	UTSW	18	62,146,137 (GRCm39)	missense	probably damaging	1.00
R8413:Sh3tc2	UTSW	18	62,148,142 (GRCm39)	missense	probably benign	0.30
R8413:Sh3tc2	UTSW	18	62,123,873 (GRCm39)	missense	probably damaging	1.00
R9034:Sh3tc2	UTSW	18	62,107,571 (GRCm39)	missense	probably benign	0.07
R9043:Sh3tc2	UTSW	18	62,122,961 (GRCm39)	missense	possibly damaging	0.89
R9218:Sh3tc2	UTSW	18	62,101,101 (GRCm39)	missense	probably benign	0.09
R9249:Sh3tc2	UTSW	18	62,107,598 (GRCm39)	missense	possibly damaging	0.52
Z1176:Sh3tc2	UTSW	18	62,122,980 (GRCm39)	nonsense	probably null
Z1177:Sh3tc2	UTSW	18	62,148,062 (GRCm39)	missense	probably damaging	0.96
Z1177:Sh3tc2	UTSW	18	62,124,389 (GRCm39)	missense	probably benign	0.09
Z1177:Sh3tc2	UTSW	18	62,122,759 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16