Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03357:Thoc2l'

419979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thoc2l

Ensembl Gene

ENSMUSG00000079065

Gene Name

THO complex subunit 2-like

Synonyms

Gm3179, BC005561

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

IGL03357

Quality Score

Status

Chromosome

Chromosomal Location

104656216-104702073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104668334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 952 (V952G)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096452]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096452
AA Change: V952G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V952G

Domain	Start	End	E-Value	Type
Pfam:THOC2_N	10	424	3.5e-65	PFAM
Pfam:THOC2_N	415	566	5.8e-32	PFAM
Pfam:Thoc2	568	643	8.3e-40	PFAM
low complexity region	729	747	N/A	INTRINSIC
Pfam:Tho2	873	1173	1.1e-105	PFAM
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1266	1283	N/A	INTRINSIC
coiled coil region	1310	1335	N/A	INTRINSIC
low complexity region	1355	1366	N/A	INTRINSIC
low complexity region	1459	1482	N/A	INTRINSIC
low complexity region	1524	1543	N/A	INTRINSIC
low complexity region	1561	1569	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	T	19: 8,986,689 (GRCm39)		probably benign	Het
Asah1	A	G	8: 41,799,233 (GRCm39)		probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,859,936 (GRCm39)		probably benign	Het
Chn2	G	A	6: 54,171,062 (GRCm39)	R47Q	probably benign	Het
Clmp	A	G	9: 40,597,623 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,987,740 (GRCm39)	G245R	probably damaging	Het
Cyp4a32	T	A	4: 115,468,798 (GRCm39)	S395T	probably benign	Het
Dcc	A	T	18: 71,460,625 (GRCm39)	I1155K	probably damaging	Het
Dpy19l4	G	A	4: 11,267,615 (GRCm39)	H442Y	probably damaging	Het
Dpys	T	C	15: 39,687,612 (GRCm39)	I395M	probably damaging	Het
Dpysl2	T	C	14: 67,050,736 (GRCm39)	K374E	probably damaging	Het
Fryl	A	T	5: 73,211,402 (GRCm39)	D660E	probably damaging	Het
Gabrb2	T	C	11: 42,482,771 (GRCm39)	F210L	probably damaging	Het
Gm4831	C	T	17: 37,422,879 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,243,632 (GRCm39)	M234K	probably benign	Het
Ints11	T	C	4: 155,956,581 (GRCm39)		probably benign	Het
Mex3a	T	A	3: 88,443,553 (GRCm39)	S210T	probably benign	Het
Or4k42	C	T	2: 111,320,289 (GRCm39)	M71I	probably benign	Het
Or4k52	G	A	2: 111,610,871 (GRCm39)	V69I	probably benign	Het
Pde1c	A	G	6: 56,157,078 (GRCm39)	V106A	probably damaging	Het
Pitpnm3	G	A	11: 71,961,716 (GRCm39)	Q284*	probably null	Het
Pkd1l2	A	G	8: 117,722,548 (GRCm39)	L2420P	probably damaging	Het
Prpf39	A	G	12: 65,108,211 (GRCm39)		probably benign	Het
Prss28	C	T	17: 25,528,669 (GRCm39)	T37I	probably benign	Het
Serpinb6c	A	T	13: 34,079,369 (GRCm39)	S108T	probably benign	Het
Snx7	T	C	3: 117,632,524 (GRCm39)	H131R	probably damaging	Het
Tex101	A	T	7: 24,367,758 (GRCm39)	I198K	probably damaging	Het
Thumpd2	T	C	17: 81,351,519 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,763 (GRCm39)	I109S	probably benign	Het
Zfp212	A	T	6: 47,907,771 (GRCm39)	N250I	probably benign	Het

Other mutations in Thoc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Thoc2l	APN	5	104,668,366 (GRCm39)	missense	probably damaging	1.00
IGL01024:Thoc2l	APN	5	104,669,612 (GRCm39)	missense	probably benign	0.02
IGL01133:Thoc2l	APN	5	104,665,528 (GRCm39)	missense	probably benign
IGL01564:Thoc2l	APN	5	104,668,529 (GRCm39)	missense	probably benign	0.12
IGL01727:Thoc2l	APN	5	104,667,379 (GRCm39)	missense	probably benign	0.01
IGL02086:Thoc2l	APN	5	104,666,867 (GRCm39)	missense	possibly damaging	0.49
IGL02153:Thoc2l	APN	5	104,668,949 (GRCm39)	missense	probably benign	0.02
IGL02256:Thoc2l	APN	5	104,668,149 (GRCm39)	nonsense	probably null
IGL02436:Thoc2l	APN	5	104,669,021 (GRCm39)	missense	probably benign	0.10
IGL02969:Thoc2l	APN	5	104,667,209 (GRCm39)	missense	probably benign	0.01
IGL03275:Thoc2l	APN	5	104,666,143 (GRCm39)	missense	probably benign	0.00
Magnetar	UTSW	5	104,668,145 (GRCm39)	missense	probably damaging	0.99
F2404:Thoc2l	UTSW	5	104,668,096 (GRCm39)	missense	possibly damaging	0.83
R0318:Thoc2l	UTSW	5	104,665,619 (GRCm39)	missense	probably benign	0.00
R0349:Thoc2l	UTSW	5	104,667,842 (GRCm39)	missense	possibly damaging	0.85
R0454:Thoc2l	UTSW	5	104,666,077 (GRCm39)	missense	probably benign	0.45
R0742:Thoc2l	UTSW	5	104,670,020 (GRCm39)	missense	probably benign	0.00
R0842:Thoc2l	UTSW	5	104,667,066 (GRCm39)	missense	possibly damaging	0.81
R0882:Thoc2l	UTSW	5	104,666,875 (GRCm39)	missense	probably benign	0.05
R1123:Thoc2l	UTSW	5	104,666,336 (GRCm39)	missense	probably damaging	1.00
R1171:Thoc2l	UTSW	5	104,668,769 (GRCm39)	missense	possibly damaging	0.49
R1205:Thoc2l	UTSW	5	104,668,079 (GRCm39)	missense	probably benign	0.28
R1261:Thoc2l	UTSW	5	104,668,501 (GRCm39)	missense	probably damaging	0.98
R1432:Thoc2l	UTSW	5	104,665,970 (GRCm39)	missense	probably damaging	1.00
R1447:Thoc2l	UTSW	5	104,670,070 (GRCm39)	missense	possibly damaging	0.89
R1466:Thoc2l	UTSW	5	104,666,123 (GRCm39)	missense	probably damaging	0.99
R1466:Thoc2l	UTSW	5	104,666,123 (GRCm39)	missense	probably damaging	0.99
R1584:Thoc2l	UTSW	5	104,666,123 (GRCm39)	missense	probably damaging	0.99
R1636:Thoc2l	UTSW	5	104,668,616 (GRCm39)	missense	probably damaging	0.99
R1686:Thoc2l	UTSW	5	104,667,789 (GRCm39)	nonsense	probably null
R1698:Thoc2l	UTSW	5	104,668,376 (GRCm39)	missense	probably benign	0.09
R1816:Thoc2l	UTSW	5	104,665,700 (GRCm39)	missense	probably benign	0.16
R1903:Thoc2l	UTSW	5	104,666,196 (GRCm39)	missense	probably benign	0.00
R2096:Thoc2l	UTSW	5	104,667,835 (GRCm39)	missense	possibly damaging	0.95
R2146:Thoc2l	UTSW	5	104,666,857 (GRCm39)	missense	probably benign
R2226:Thoc2l	UTSW	5	104,667,286 (GRCm39)	missense	probably damaging	1.00
R2227:Thoc2l	UTSW	5	104,667,286 (GRCm39)	missense	probably damaging	1.00
R2383:Thoc2l	UTSW	5	104,666,854 (GRCm39)	missense	probably benign	0.23
R2656:Thoc2l	UTSW	5	104,667,181 (GRCm39)	missense	probably benign	0.05
R3982:Thoc2l	UTSW	5	104,668,889 (GRCm39)	missense	probably benign	0.29
R3983:Thoc2l	UTSW	5	104,668,889 (GRCm39)	missense	probably benign	0.29
R4115:Thoc2l	UTSW	5	104,667,299 (GRCm39)	missense	probably damaging	1.00
R4345:Thoc2l	UTSW	5	104,669,315 (GRCm39)	missense	probably benign	0.21
R4697:Thoc2l	UTSW	5	104,670,106 (GRCm39)	missense	probably benign	0.00
R4711:Thoc2l	UTSW	5	104,667,527 (GRCm39)	missense	probably damaging	0.98
R4742:Thoc2l	UTSW	5	104,666,723 (GRCm39)	missense	probably benign	0.17
R4758:Thoc2l	UTSW	5	104,668,265 (GRCm39)	missense	possibly damaging	0.48
R4863:Thoc2l	UTSW	5	104,665,616 (GRCm39)	missense	possibly damaging	0.89
R4867:Thoc2l	UTSW	5	104,668,868 (GRCm39)	missense	possibly damaging	0.91
R5024:Thoc2l	UTSW	5	104,670,124 (GRCm39)	missense	possibly damaging	0.68
R5114:Thoc2l	UTSW	5	104,667,742 (GRCm39)	missense	probably damaging	0.99
R5117:Thoc2l	UTSW	5	104,668,121 (GRCm39)	missense	probably damaging	1.00
R5289:Thoc2l	UTSW	5	104,667,523 (GRCm39)	missense	probably benign	0.03
R5341:Thoc2l	UTSW	5	104,665,942 (GRCm39)	missense	probably damaging	1.00
R5420:Thoc2l	UTSW	5	104,666,225 (GRCm39)	missense	probably damaging	0.99
R5421:Thoc2l	UTSW	5	104,666,261 (GRCm39)	missense	probably benign	0.01
R5422:Thoc2l	UTSW	5	104,667,512 (GRCm39)	missense	probably damaging	0.98
R5606:Thoc2l	UTSW	5	104,669,744 (GRCm39)	missense	probably benign	0.00
R5939:Thoc2l	UTSW	5	104,667,073 (GRCm39)	missense	possibly damaging	0.56
R6104:Thoc2l	UTSW	5	104,666,084 (GRCm39)	missense	probably damaging	1.00
R6169:Thoc2l	UTSW	5	104,666,262 (GRCm39)	missense	probably benign	0.00
R6316:Thoc2l	UTSW	5	104,667,595 (GRCm39)	missense	probably damaging	1.00
R6352:Thoc2l	UTSW	5	104,668,064 (GRCm39)	missense	probably benign	0.11
R6408:Thoc2l	UTSW	5	104,666,643 (GRCm39)	missense	probably benign	0.19
R6458:Thoc2l	UTSW	5	104,670,169 (GRCm39)	missense	probably benign	0.02
R6722:Thoc2l	UTSW	5	104,668,145 (GRCm39)	missense	probably damaging	0.99
R6789:Thoc2l	UTSW	5	104,665,555 (GRCm39)	missense	probably benign	0.00
R7214:Thoc2l	UTSW	5	104,670,229 (GRCm39)	missense	probably benign
R7494:Thoc2l	UTSW	5	104,666,284 (GRCm39)	missense	possibly damaging	0.90
R7733:Thoc2l	UTSW	5	104,667,826 (GRCm39)	missense	possibly damaging	0.82
R7884:Thoc2l	UTSW	5	104,669,212 (GRCm39)	missense	possibly damaging	0.52
R7945:Thoc2l	UTSW	5	104,666,413 (GRCm39)	missense	possibly damaging	0.93
R8112:Thoc2l	UTSW	5	104,669,501 (GRCm39)	missense	probably benign
R8131:Thoc2l	UTSW	5	104,669,027 (GRCm39)	missense	possibly damaging	0.95
R8418:Thoc2l	UTSW	5	104,667,724 (GRCm39)	missense	possibly damaging	0.60
R8963:Thoc2l	UTSW	5	104,665,652 (GRCm39)	missense	probably benign	0.00
R9051:Thoc2l	UTSW	5	104,666,818 (GRCm39)	missense	probably benign	0.07
R9169:Thoc2l	UTSW	5	104,666,348 (GRCm39)	missense	probably damaging	1.00
R9250:Thoc2l	UTSW	5	104,667,320 (GRCm39)	missense	probably benign	0.00
R9358:Thoc2l	UTSW	5	104,667,826 (GRCm39)	missense	possibly damaging	0.82
R9451:Thoc2l	UTSW	5	104,668,644 (GRCm39)	missense	probably benign	0.07
R9452:Thoc2l	UTSW	5	104,669,610 (GRCm39)	missense	probably benign	0.00
R9567:Thoc2l	UTSW	5	104,669,644 (GRCm39)	missense	probably benign	0.00
R9760:Thoc2l	UTSW	5	104,667,101 (GRCm39)	missense	probably benign
Z1176:Thoc2l	UTSW	5	104,668,058 (GRCm39)	missense	possibly damaging	0.69

Posted On

2016-08-02