Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02827:Sh3tc2'

361257

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 #

IGL02827

Quality Score

Status

Chromosome

Chromosomal Location

62086002-62148790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62146230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1203 (S1203N)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably benign
Transcript: ENSMUST00000051720
AA Change: S1203N

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: S1203N

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,845,699 (GRCm39)	S1554P	probably damaging	Het
Actn2	A	T	13: 12,290,085 (GRCm39)	L152Q	probably damaging	Het
Afg3l2	T	C	18: 67,559,015 (GRCm39)	I369V	probably damaging	Het
Aqp6	G	A	15: 99,500,892 (GRCm39)	G199S	probably damaging	Het
Asgr2	A	G	11: 69,987,723 (GRCm39)	I74V	probably benign	Het
Cebpz	T	C	17: 79,236,760 (GRCm39)	R702G	probably damaging	Het
Cers1	C	T	8: 70,774,177 (GRCm39)	P145S	probably damaging	Het
Ddx21	T	C	10: 62,434,153 (GRCm39)	K202R	probably benign	Het
Gphn	A	T	12: 78,655,994 (GRCm39)	D407V	probably damaging	Het
Hnf1b	A	G	11: 83,746,752 (GRCm39)	K123E	probably damaging	Het
Ifitm10	T	C	7: 141,882,317 (GRCm39)	D151G	unknown	Het
Ifna14	T	A	4: 88,489,601 (GRCm39)	K145N	probably benign	Het
Lamc2	C	T	1: 153,015,527 (GRCm39)	C602Y	probably damaging	Het
Mrps25	T	C	6: 92,152,163 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	T	4: 118,726,157 (GRCm39)	M60L	probably damaging	Het
Or1f12	A	G	13: 21,721,528 (GRCm39)	S216P	probably benign	Het
Pgm5	C	A	19: 24,686,659 (GRCm39)	R516L	probably benign	Het
Pramel31	C	T	4: 144,090,331 (GRCm39)	A457V	probably damaging	Het
Rmnd5b	A	G	11: 51,518,849 (GRCm39)	L48P	possibly damaging	Het
Samd4b	G	A	7: 28,113,546 (GRCm39)	R140C	probably damaging	Het
Sema3d	T	C	5: 12,635,085 (GRCm39)	I717T	probably benign	Het
Smpdl3a	A	G	10: 57,678,592 (GRCm39)	T132A	probably damaging	Het
Stard13	T	C	5: 150,986,591 (GRCm39)	I188M	probably benign	Het
Stk17b	T	C	1: 53,815,701 (GRCm39)	T33A	probably benign	Het
Stxbp3	A	T	3: 108,717,211 (GRCm39)	I264N	probably damaging	Het
Tmem60	T	A	5: 21,091,622 (GRCm39)	F129Y	probably damaging	Het
Trpm1	A	G	7: 63,868,908 (GRCm39)	D404G	probably null	Het
Unc79	A	C	12: 103,041,105 (GRCm39)	S713R	possibly damaging	Het
Uox	A	C	3: 146,302,951 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,886,800 (GRCm39)	D38G	probably damaging	Het
Vps13a	T	C	19: 16,618,998 (GRCm39)	D2856G	possibly damaging	Het
Vsig10l	T	C	7: 43,114,293 (GRCm39)	L205P	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
IGL02555:Sh3tc2	APN	18	62,123,308 (GRCm39)	missense	probably damaging	0.99
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

2015-12-18