Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Sh3tc1'

45078

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

MMRRC Submission

038742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35854524-35897331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35857128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1237 (E1237G)

Ref Sequence

ENSEMBL: ENSMUSP00000144175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]

AlphaFold

G3X9F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070203
AA Change: E1237G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: E1237G

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127288

Predicted Effect

unknown
Transcript: ENSMUST00000127825
AA Change: N1138D

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: N1138D

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
SH3	251	310	1.72e-6	SMART
low complexity region	320	336	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC
low complexity region	480	491	N/A	INTRINSIC
TPR	504	537	3.41e1	SMART
Blast:TPR	546	578	2e-6	BLAST
TPR	607	640	3.37e-2	SMART
TPR	735	768	6.4e1	SMART
Blast:TPR	813	841	2e-6	BLAST
TPR	852	885	9.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129664

SMART Domains

Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553

Domain	Start	End	E-Value	Type
low complexity region	34	42	N/A	INTRINSIC
SH3	76	130	2.41e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151555

Predicted Effect

probably damaging
Transcript: ENSMUST00000201511
AA Change: E1237G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: E1237G

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Meta Mutation Damage Score

0.2043

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,666 (GRCm39)	Y947N	probably damaging	Het
Acss3	C	A	10: 106,889,332 (GRCm39)	G163C	probably damaging	Het
Adcy10	A	G	1: 165,392,884 (GRCm39)	T1367A	probably benign	Het
Adcy2	A	T	13: 69,130,480 (GRCm39)	S136T	probably benign	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Aldh16a1	C	T	7: 44,795,653 (GRCm39)		probably null	Het
Ankrd36	T	C	11: 5,557,429 (GRCm39)		probably null	Het
Aqr	A	C	2: 113,963,457 (GRCm39)	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,173 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,866,368 (GRCm39)		probably benign	Het
Bbx	T	C	16: 50,094,896 (GRCm39)		probably benign	Het
Bmper	T	A	9: 23,285,181 (GRCm39)	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 149,036,741 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,970,427 (GRCm39)		probably null	Het
Ccdc92b	T	A	11: 74,520,771 (GRCm39)		probably null	Het
Cd2bp2	G	T	7: 126,792,996 (GRCm39)	T342K	probably damaging	Het
Clrn3	T	A	7: 135,130,154 (GRCm39)	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,234,042 (GRCm39)		probably null	Het
Cntnap3	T	C	13: 64,909,814 (GRCm39)	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,308 (GRCm39)	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,941,457 (GRCm39)	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753 (GRCm39)	S389P	probably benign	Het
Ddx18	T	C	1: 121,483,104 (GRCm39)	K561E	probably benign	Het
Dkk3	A	G	7: 111,757,452 (GRCm39)	F51L	probably damaging	Het
Dnai1	C	T	4: 41,596,274 (GRCm39)	R20*	probably null	Het
Dr1	G	A	5: 108,417,471 (GRCm39)	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,961,067 (GRCm39)	Y16C	probably damaging	Het
Epb41	A	G	4: 131,702,924 (GRCm39)	I464T	probably damaging	Het
Erc2	A	G	14: 27,993,608 (GRCm39)	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,305,429 (GRCm39)	D315G	probably damaging	Het
Fads6	A	G	11: 115,187,503 (GRCm39)	I64T	probably benign	Het
Fshr	T	C	17: 89,352,553 (GRCm39)	N107S	probably benign	Het
Gbp11	A	T	5: 105,491,616 (GRCm39)	N60K	probably benign	Het
Gm2a	C	T	11: 54,994,491 (GRCm39)	Q54*	probably null	Het
Hydin	A	G	8: 111,314,407 (GRCm39)	D4297G	probably benign	Het
Il6st	G	A	13: 112,611,648 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,723,966 (GRCm39)	H499Q	probably benign	Het
Kif5c	A	G	2: 49,648,924 (GRCm39)	K956R	possibly damaging	Het
Krt74	G	A	15: 101,669,114 (GRCm39)		noncoding transcript	Het
Map3k9	A	T	12: 81,772,555 (GRCm39)	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479 (GRCm39)	D2871G	probably benign	Het
Mylk4	T	C	13: 32,900,649 (GRCm39)	T294A	probably benign	Het
Nbeal2	C	T	9: 110,471,226 (GRCm39)	V252I	probably benign	Het
Nectin3	A	G	16: 46,279,183 (GRCm39)	I265T	possibly damaging	Het
Opn1sw	A	T	6: 29,380,203 (GRCm39)	L71Q	probably damaging	Het
Or4c12	A	G	2: 89,773,733 (GRCm39)	I242T	probably damaging	Het
Or52m1	G	A	7: 102,290,157 (GRCm39)	E235K	possibly damaging	Het
Or5aq6	G	T	2: 86,923,473 (GRCm39)	H89Q	probably benign	Het
Or5b97	A	T	19: 12,879,164 (GRCm39)		probably null	Het
Or5k17	A	G	16: 58,746,748 (GRCm39)	F62S	probably damaging	Het
Or8b46	T	A	9: 38,450,676 (GRCm39)	C162S	probably damaging	Het
Or8k27	A	T	2: 86,276,220 (GRCm39)	Y35*	probably null	Het
Pced1a	G	A	2: 130,261,553 (GRCm39)	P367S	probably benign	Het
Pkhd1	A	T	1: 20,417,447 (GRCm39)	M2568K	probably null	Het
Pla2r1	A	G	2: 60,255,694 (GRCm39)		probably null	Het
Plpp1	T	C	13: 112,971,519 (GRCm39)	I62T	probably benign	Het
Polr3g	G	A	13: 81,842,892 (GRCm39)	T41I	probably damaging	Het
Ptch2	T	C	4: 116,953,630 (GRCm39)		probably benign	Het
Sema4g	A	T	19: 44,986,104 (GRCm39)	H315L	probably benign	Het
Setd1b	G	T	5: 123,295,723 (GRCm39)	S1097I	unknown	Het
Sfxn4	A	G	19: 60,839,383 (GRCm39)		probably benign	Het
Slc25a38	A	T	9: 119,952,709 (GRCm39)	N287I	probably benign	Het
Slc25a48	A	G	13: 56,596,811 (GRCm39)	T31A	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,669,220 (GRCm39)		probably benign	Het
Slco4c1	A	C	1: 96,795,584 (GRCm39)	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,063,803 (GRCm39)	T2208A	probably benign	Het
Srebf1	G	A	11: 60,092,502 (GRCm39)	T843I	probably benign	Het
Srl	A	G	16: 4,305,429 (GRCm39)	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,484,031 (GRCm39)	C76*	probably null	Het
Tdrd3	C	A	14: 87,723,656 (GRCm39)	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trpm3	A	G	19: 22,965,176 (GRCm39)	E1547G	probably damaging	Het
Ubn1	A	G	16: 4,880,484 (GRCm39)		probably null	Het
Usp10	T	A	8: 120,674,540 (GRCm39)	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,405,134 (GRCm39)		probably benign	Het
Vit	T	A	17: 78,932,222 (GRCm39)	V443E	possibly damaging	Het
Whamm	G	A	7: 81,235,972 (GRCm39)	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,465,554 (GRCm39)	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,112,927 (GRCm39)	T356S	probably damaging	Het

Other mutations in Sh3tc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Sh3tc1	APN	5	35,868,301 (GRCm39)	missense	probably damaging	1.00
IGL01019:Sh3tc1	APN	5	35,860,719 (GRCm39)	missense	probably damaging	1.00
IGL01725:Sh3tc1	APN	5	35,857,660 (GRCm39)	missense	probably benign	0.08
IGL02069:Sh3tc1	APN	5	35,876,339 (GRCm39)	missense	probably benign	0.45
IGL02153:Sh3tc1	APN	5	35,860,696 (GRCm39)	missense	probably damaging	1.00
IGL02269:Sh3tc1	APN	5	35,863,628 (GRCm39)	missense	probably benign	0.21
IGL02609:Sh3tc1	APN	5	35,864,516 (GRCm39)	missense	probably damaging	0.99
IGL02984:Sh3tc1	UTSW	5	35,871,403 (GRCm39)	splice site	probably null
R0280:Sh3tc1	UTSW	5	35,863,361 (GRCm39)	missense	probably damaging	1.00
R0305:Sh3tc1	UTSW	5	35,881,343 (GRCm39)	missense	probably benign
R0322:Sh3tc1	UTSW	5	35,863,905 (GRCm39)	missense	possibly damaging	0.86
R0485:Sh3tc1	UTSW	5	35,859,356 (GRCm39)	splice site	probably benign
R0511:Sh3tc1	UTSW	5	35,860,806 (GRCm39)	missense	probably damaging	1.00
R0513:Sh3tc1	UTSW	5	35,857,651 (GRCm39)	missense	possibly damaging	0.87
R0523:Sh3tc1	UTSW	5	35,881,410 (GRCm39)	small deletion	probably benign
R0676:Sh3tc1	UTSW	5	35,876,458 (GRCm39)	splice site	probably benign
R1485:Sh3tc1	UTSW	5	35,876,370 (GRCm39)	missense	probably benign	0.00
R1559:Sh3tc1	UTSW	5	35,860,693 (GRCm39)	critical splice donor site	probably null
R1599:Sh3tc1	UTSW	5	35,864,856 (GRCm39)	missense	probably benign	0.05
R1759:Sh3tc1	UTSW	5	35,863,248 (GRCm39)	missense	possibly damaging	0.95
R1808:Sh3tc1	UTSW	5	35,863,268 (GRCm39)	missense	probably benign	0.01
R1816:Sh3tc1	UTSW	5	35,857,928 (GRCm39)	critical splice donor site	probably null
R2036:Sh3tc1	UTSW	5	35,873,508 (GRCm39)	missense	probably benign	0.01
R2092:Sh3tc1	UTSW	5	35,858,002 (GRCm39)	missense	probably damaging	1.00
R2944:Sh3tc1	UTSW	5	35,871,504 (GRCm39)	missense	probably damaging	1.00
R4258:Sh3tc1	UTSW	5	35,864,322 (GRCm39)	missense	probably benign	0.00
R4556:Sh3tc1	UTSW	5	35,864,426 (GRCm39)	missense	probably damaging	1.00
R4647:Sh3tc1	UTSW	5	35,863,662 (GRCm39)	missense	probably damaging	1.00
R5011:Sh3tc1	UTSW	5	35,857,633 (GRCm39)	missense	probably damaging	1.00
R5740:Sh3tc1	UTSW	5	35,864,399 (GRCm39)	missense	probably benign	0.00
R6023:Sh3tc1	UTSW	5	35,864,295 (GRCm39)	nonsense	probably null
R6164:Sh3tc1	UTSW	5	35,863,590 (GRCm39)	missense	probably benign	0.05
R6262:Sh3tc1	UTSW	5	35,857,117 (GRCm39)	missense	probably damaging	1.00
R6433:Sh3tc1	UTSW	5	35,863,941 (GRCm39)	missense	probably damaging	0.99
R6932:Sh3tc1	UTSW	5	35,864,778 (GRCm39)	missense	probably benign	0.01
R6986:Sh3tc1	UTSW	5	35,881,288 (GRCm39)	missense	probably benign
R7098:Sh3tc1	UTSW	5	35,859,358 (GRCm39)	splice site	probably null
R7502:Sh3tc1	UTSW	5	35,863,406 (GRCm39)	missense	probably damaging	0.96
R7737:Sh3tc1	UTSW	5	35,881,297 (GRCm39)	missense	probably benign	0.15
R7792:Sh3tc1	UTSW	5	35,868,295 (GRCm39)	missense	probably damaging	0.97
R8079:Sh3tc1	UTSW	5	35,864,201 (GRCm39)	missense	possibly damaging	0.78
R8154:Sh3tc1	UTSW	5	35,875,696 (GRCm39)	missense	probably damaging	1.00
R8267:Sh3tc1	UTSW	5	35,863,751 (GRCm39)	missense	probably benign	0.01
R8300:Sh3tc1	UTSW	5	35,854,792 (GRCm39)	missense	probably benign	0.00
R8416:Sh3tc1	UTSW	5	35,868,256 (GRCm39)	missense	probably damaging	0.99
R8459:Sh3tc1	UTSW	5	35,878,933 (GRCm39)	missense	probably benign
R8699:Sh3tc1	UTSW	5	35,859,235 (GRCm39)	missense	probably damaging	1.00
R8754:Sh3tc1	UTSW	5	35,863,802 (GRCm39)	missense	probably benign	0.07
R8782:Sh3tc1	UTSW	5	35,871,548 (GRCm39)	missense	possibly damaging	0.93
R9044:Sh3tc1	UTSW	5	35,854,834 (GRCm39)	missense	possibly damaging	0.84
R9047:Sh3tc1	UTSW	5	35,863,827 (GRCm39)	missense	probably benign
R9092:Sh3tc1	UTSW	5	35,874,321 (GRCm39)	missense	probably benign	0.00
R9771:Sh3tc1	UTSW	5	35,873,654 (GRCm39)	missense	probably damaging	1.00
X0061:Sh3tc1	UTSW	5	35,864,153 (GRCm39)	missense	probably damaging	1.00
Z1176:Sh3tc1	UTSW	5	35,871,573 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCACACTCAGGTGGAACAATGACTC -3'
(R):5'- TTCTCTTGCTGGGACCACATGC -3'

Sequencing Primer
(F):5'- GGTGGAACAATGACTCTACCC -3'
(R):5'- GCCTTACTGGGTAGTGTCCTC -3'

Posted On

2013-06-11