Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:Sh3tc2'

389417

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

MMRRC Submission

042624-MU

Accession Numbers

Genbank: NM_172628

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5033 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

61953075-62015715 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 62014891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably null
Transcript: ENSMUST00000051720

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

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

Predicted Effect

probably null
Transcript: ENSMUST00000051720

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

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

Predicted Effect

probably null
Transcript: ENSMUST00000051720

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,279,414 (GRCm38)	V149A	probably benign	Het
1700012B07Rik	G	T	11: 109,794,154 (GRCm38)	C172*	probably null	Het
4931406P16Rik	C	T	7: 34,245,812 (GRCm38)	G336S	probably benign	Het
9930111J21Rik1	G	A	11: 48,947,706 (GRCm38)	R685W	probably damaging	Het
Arhgap10	A	T	8: 77,382,757 (GRCm38)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,611,660 (GRCm38)		probably benign	Het
Atp13a2	A	G	4: 141,000,821 (GRCm38)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,411,270 (GRCm38)		probably null	Het
Catsperg2	A	C	7: 29,710,134 (GRCm38)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 180,065,015 (GRCm38)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,648,825 (GRCm38)		probably benign	Het
Cfap46	C	A	7: 139,603,860 (GRCm38)	L90F	probably benign	Het
Cndp2	A	G	18: 84,670,829 (GRCm38)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,346,110 (GRCm38)	D129A	probably damaging	Het
Daam1	C	A	12: 71,946,520 (GRCm38)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,678 (GRCm38)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,205,023 (GRCm38)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,320,201 (GRCm38)	H179R	probably damaging	Het
Dym	A	G	18: 75,119,161 (GRCm38)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 117,052,736 (GRCm38)	D156G	probably damaging	Het
Emc1	A	G	4: 139,371,696 (GRCm38)	D830G	probably damaging	Het
F13a1	A	C	13: 36,988,856 (GRCm38)	I183M	probably damaging	Het
Fam136b-ps	T	A	15: 31,276,897 (GRCm38)		probably benign	Het
Fdft1	C	A	14: 63,163,404 (GRCm38)	K93N	probably damaging	Het
Gcc2	A	G	10: 58,278,806 (GRCm38)	D959G	probably damaging	Het
Gm14085	T	A	2: 122,522,914 (GRCm38)		probably null	Het
Gm853	C	T	4: 130,221,615 (GRCm38)		probably null	Het
Gp2	A	G	7: 119,454,291 (GRCm38)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,857,029 (GRCm38)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,373,907 (GRCm38)	C587S	probably benign	Het
Hspg2	C	T	4: 137,518,940 (GRCm38)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,317,928 (GRCm38)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,293,524 (GRCm38)	C121W	probably damaging	Het
Jazf1	A	G	6: 52,777,540 (GRCm38)	Y184H	probably damaging	Het
Kel	A	T	6: 41,699,055 (GRCm38)	Y234N	probably damaging	Het
Khk	G	A	5: 30,929,660 (GRCm38)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm38)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,314,708 (GRCm38)	L2135F	probably benign	Het
Krtap15	A	G	16: 88,829,156 (GRCm38)	Y37C	probably damaging	Het
Lars	A	G	18: 42,214,776 (GRCm38)	F994S	possibly damaging	Het
Lrp8	T	C	4: 107,834,755 (GRCm38)		probably null	Het
Lrrc2	A	T	9: 110,980,919 (GRCm38)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,007,502 (GRCm38)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,895,331 (GRCm38)		probably null	Het
Olfr1130	T	A	2: 87,607,711 (GRCm38)	C108S	probably damaging	Het
Olfr745	T	A	14: 50,643,162 (GRCm38)	Y288N	probably damaging	Het
Olfr898	C	T	9: 38,349,628 (GRCm38)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,399,945 (GRCm38)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,077,668 (GRCm38)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm38)	W969R	probably null	Het
Pigr	A	T	1: 130,844,699 (GRCm38)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 45,154,854 (GRCm38)		probably benign	Het
Pik3cg	A	T	12: 32,199,196 (GRCm38)		probably null	Het
Pik3r6	A	T	11: 68,533,468 (GRCm38)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,305,250 (GRCm38)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,421,593 (GRCm38)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,658,656 (GRCm38)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,185,212 (GRCm38)	Q213*	probably null	Het
Prpf6	T	A	2: 181,650,106 (GRCm38)	C739S	possibly damaging	Het
Psmc3	T	A	2: 91,054,608 (GRCm38)	S40T	probably benign	Het
Psmd3	A	T	11: 98,682,824 (GRCm38)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,691,381 (GRCm38)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,313,209 (GRCm38)	S328A	probably benign	Het
Ros1	C	T	10: 52,128,416 (GRCm38)		probably null	Het
Ryr2	T	A	13: 11,587,254 (GRCm38)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,586,399 (GRCm38)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,419,649 (GRCm38)	V664A	probably benign	Het
Selenoo	T	A	15: 89,092,766 (GRCm38)	M207K	probably damaging	Het
Slco2b1	G	T	7: 99,660,049 (GRCm38)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,186,797 (GRCm38)	D137V	probably damaging	Het
Srrm2	G	A	17: 23,820,618 (GRCm38)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,693,399 (GRCm38)	C692S	probably benign	Het
Sulf2	T	A	2: 166,081,622 (GRCm38)	D559V	probably benign	Het
Tbpl2	T	C	2: 24,087,158 (GRCm38)	I283V	probably benign	Het
Tmem19	A	G	10: 115,359,761 (GRCm38)	F46S	probably benign	Het
Trp63	T	A	16: 25,763,306 (GRCm38)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,886,442 (GRCm38)		probably benign	Het
Ube2z	A	T	11: 96,050,322 (GRCm38)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,911,997 (GRCm38)		probably null	Het
Uhrf1bp1	A	G	17: 27,886,864 (GRCm38)	E788G	probably damaging	Het
Vmn1r235	A	T	17: 21,262,288 (GRCm38)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,080 (GRCm38)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,259,799 (GRCm38)	V637A	probably benign	Het
Xpnpep1	C	A	19: 53,006,175 (GRCm38)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,194,747 (GRCm38)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,866,638 (GRCm38)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,586,128 (GRCm38)	S857P	probably benign	Het

Other mutations in Sh3tc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Sh3tc2	APN	18	61,989,511 (GRCm38)	missense	probably damaging	1.00
IGL01523:Sh3tc2	APN	18	61,990,883 (GRCm38)	missense	probably benign	0.00
IGL02036:Sh3tc2	APN	18	62,014,907 (GRCm38)	missense	probably benign	0.17
IGL02189:Sh3tc2	APN	18	61,990,622 (GRCm38)	missense	probably benign	0.00
IGL02555:Sh3tc2	APN	18	61,990,237 (GRCm38)	missense	probably damaging	0.99
IGL02827:Sh3tc2	APN	18	62,013,159 (GRCm38)	missense	probably benign	0.34
IGL03033:Sh3tc2	APN	18	61,974,478 (GRCm38)	missense	possibly damaging	0.90
IGL03040:Sh3tc2	APN	18	61,989,410 (GRCm38)	missense	probably benign	0.00
IGL03062:Sh3tc2	APN	18	62,011,880 (GRCm38)	missense	probably damaging	1.00
IGL03386:Sh3tc2	APN	18	61,973,311 (GRCm38)	missense	probably benign	0.39
3-1:Sh3tc2	UTSW	18	61,991,138 (GRCm38)	missense	probably damaging	1.00
R1085:Sh3tc2	UTSW	18	62,014,996 (GRCm38)	missense	probably benign	0.01
R1166:Sh3tc2	UTSW	18	61,991,176 (GRCm38)	missense	probably damaging	0.99
R1182:Sh3tc2	UTSW	18	61,968,100 (GRCm38)	missense	probably benign	0.17
R1521:Sh3tc2	UTSW	18	62,008,488 (GRCm38)	missense	probably damaging	0.96
R1636:Sh3tc2	UTSW	18	61,989,721 (GRCm38)	missense	probably damaging	0.98
R1872:Sh3tc2	UTSW	18	62,011,883 (GRCm38)	missense	probably damaging	1.00
R1884:Sh3tc2	UTSW	18	62,008,575 (GRCm38)	missense	probably damaging	1.00
R1964:Sh3tc2	UTSW	18	61,991,155 (GRCm38)	nonsense	probably null
R2034:Sh3tc2	UTSW	18	61,987,666 (GRCm38)	missense	probably damaging	1.00
R2046:Sh3tc2	UTSW	18	61,990,843 (GRCm38)	missense	probably benign
R2113:Sh3tc2	UTSW	18	62,013,105 (GRCm38)	missense	probably damaging	1.00
R2363:Sh3tc2	UTSW	18	61,990,895 (GRCm38)	missense	probably benign	0.07
R2940:Sh3tc2	UTSW	18	61,989,686 (GRCm38)	missense	probably damaging	1.00
R2979:Sh3tc2	UTSW	18	61,989,485 (GRCm38)	missense	probably damaging	1.00
R3717:Sh3tc2	UTSW	18	61,990,343 (GRCm38)	missense	probably benign	0.04
R3718:Sh3tc2	UTSW	18	61,990,343 (GRCm38)	missense	probably benign	0.04
R4334:Sh3tc2	UTSW	18	61,990,321 (GRCm38)	missense	probably damaging	1.00
R4454:Sh3tc2	UTSW	18	62,007,773 (GRCm38)	missense	probably damaging	1.00
R4503:Sh3tc2	UTSW	18	61,974,623 (GRCm38)	missense	probably damaging	0.96
R4515:Sh3tc2	UTSW	18	61,987,693 (GRCm38)	splice site	probably null
R4659:Sh3tc2	UTSW	18	61,974,509 (GRCm38)	missense	probably benign	0.00
R4859:Sh3tc2	UTSW	18	62,013,093 (GRCm38)	missense	probably benign	0.00
R4901:Sh3tc2	UTSW	18	61,990,435 (GRCm38)	missense	probably benign	0.03
R5269:Sh3tc2	UTSW	18	61,975,613 (GRCm38)	missense	probably benign	0.00
R5439:Sh3tc2	UTSW	18	61,989,633 (GRCm38)	nonsense	probably null
R5467:Sh3tc2	UTSW	18	61,990,688 (GRCm38)	missense	possibly damaging	0.81
R5468:Sh3tc2	UTSW	18	61,973,431 (GRCm38)	critical splice donor site	probably null
R5527:Sh3tc2	UTSW	18	62,011,861 (GRCm38)	missense	probably benign	0.00
R5829:Sh3tc2	UTSW	18	61,990,915 (GRCm38)	missense	probably benign	0.19
R5880:Sh3tc2	UTSW	18	61,973,311 (GRCm38)	missense	probably benign	0.39
R5948:Sh3tc2	UTSW	18	62,013,105 (GRCm38)	missense	probably damaging	1.00
R5951:Sh3tc2	UTSW	18	61,990,007 (GRCm38)	missense	probably damaging	1.00
R5973:Sh3tc2	UTSW	18	61,977,904 (GRCm38)	missense	probably benign	0.06
R5995:Sh3tc2	UTSW	18	61,990,010 (GRCm38)	missense	probably damaging	0.96
R6309:Sh3tc2	UTSW	18	61,968,010 (GRCm38)	missense	probably damaging	0.98
R6339:Sh3tc2	UTSW	18	61,975,571 (GRCm38)	nonsense	probably null
R6648:Sh3tc2	UTSW	18	62,015,040 (GRCm38)	missense	probably benign	0.00
R6723:Sh3tc2	UTSW	18	61,977,954 (GRCm38)	missense	probably damaging	1.00
R6752:Sh3tc2	UTSW	18	61,961,037 (GRCm38)	missense	probably benign	0.00
R7211:Sh3tc2	UTSW	18	61,989,403 (GRCm38)	missense	probably benign
R7367:Sh3tc2	UTSW	18	61,989,506 (GRCm38)	missense	probably benign	0.00
R7664:Sh3tc2	UTSW	18	62,014,971 (GRCm38)	nonsense	probably null
R7727:Sh3tc2	UTSW	18	61,989,580 (GRCm38)	missense	probably benign	0.02
R7823:Sh3tc2	UTSW	18	61,953,117 (GRCm38)	start codon destroyed	probably null	1.00
R8191:Sh3tc2	UTSW	18	61,973,358 (GRCm38)	missense	probably damaging	1.00
R8204:Sh3tc2	UTSW	18	61,953,129 (GRCm38)	missense	probably damaging	1.00
R8219:Sh3tc2	UTSW	18	62,011,861 (GRCm38)	missense	probably benign	0.00
R8260:Sh3tc2	UTSW	18	62,013,066 (GRCm38)	missense	probably damaging	1.00
R8413:Sh3tc2	UTSW	18	62,015,071 (GRCm38)	missense	probably benign	0.30
R8413:Sh3tc2	UTSW	18	61,990,802 (GRCm38)	missense	probably damaging	1.00
R9034:Sh3tc2	UTSW	18	61,974,500 (GRCm38)	missense	probably benign	0.07
R9043:Sh3tc2	UTSW	18	61,989,890 (GRCm38)	missense	possibly damaging	0.89
R9218:Sh3tc2	UTSW	18	61,968,030 (GRCm38)	missense	probably benign	0.09
R9249:Sh3tc2	UTSW	18	61,974,527 (GRCm38)	missense	possibly damaging	0.52
Z1176:Sh3tc2	UTSW	18	61,989,909 (GRCm38)	nonsense	probably null
Z1177:Sh3tc2	UTSW	18	62,014,991 (GRCm38)	missense	probably damaging	0.96
Z1177:Sh3tc2	UTSW	18	61,991,318 (GRCm38)	missense	probably benign	0.09
Z1177:Sh3tc2	UTSW	18	61,989,688 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGACAGAGAATGCATGGTTTGGT -3'
(R):5'- CGTGCCCTCTCTGAAGAGC -3'

Sequencing Primer
(F):5'- GCAGTCAGTGTTCTTAACCACTGAG -3'
(R):5'- TCTCTGAAGAGCACCCGAAGG -3'

Posted On

2016-06-06