Mutagenetix > Incidental Mutation

Incidental Mutation 'R1903:Thoc2l'

209924

Institutional Source

Beutler Lab

Gene Symbol

Thoc2l

Ensembl Gene

ENSMUSG00000079065

Gene Name

THO complex subunit 2-like

Synonyms

Gm3179, BC005561

MMRRC Submission

039923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R1903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104656216-104702073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104666196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 239 (S239R)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: S239R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: S239R

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

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,165,635 (GRCm39)	S246R	possibly damaging	Het
Abca13	C	T	11: 9,416,411 (GRCm39)	R4058C	probably benign	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adam22	C	T	5: 8,184,525 (GRCm39)	C489Y	probably damaging	Het
Agap3	A	T	5: 24,698,011 (GRCm39)	K460I	probably damaging	Het
Ak4	T	C	4: 101,320,833 (GRCm39)	I214T	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arrb2	T	A	11: 70,328,808 (GRCm39)	H221Q	probably damaging	Het
Atl1	T	G	12: 70,006,049 (GRCm39)	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063 (GRCm39)	T604A	probably damaging	Het
Bglap3	T	C	3: 88,276,068 (GRCm39)	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Ccnl1	A	G	3: 65,854,332 (GRCm39)	S430P	possibly damaging	Het
Cdhr18	C	T	14: 13,829,657 (GRCm38)	S695N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,321,791 (GRCm39)		probably null	Het
Cep126	A	T	9: 8,120,748 (GRCm39)	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnga1	T	G	5: 72,774,068 (GRCm39)	D90A	possibly damaging	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466 (GRCm39)	S314P	probably damaging	Het
Crhr1	A	G	11: 104,060,675 (GRCm39)	R151G	probably damaging	Het
Crybg2	A	G	4: 133,806,167 (GRCm39)	I930V	probably damaging	Het
Ctcf	T	A	8: 106,402,620 (GRCm39)		probably null	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Decr2	A	T	17: 26,306,387 (GRCm39)	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,106,136 (GRCm39)	L346R	probably damaging	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
Duox2	T	A	2: 122,125,832 (GRCm39)	I296F	probably damaging	Het
Ece2	T	A	16: 20,463,922 (GRCm39)	L890H	probably damaging	Het
Ecsit	A	G	9: 21,987,815 (GRCm39)	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,654,687 (GRCm39)	C664R	probably damaging	Het
Evpl	G	T	11: 116,117,854 (GRCm39)	D778E	probably damaging	Het
Eya3	T	A	4: 132,448,663 (GRCm39)		probably null	Het
Fam217b	A	T	2: 178,062,374 (GRCm39)	I113F	probably benign	Het
Galnt6	G	A	15: 100,613,999 (GRCm39)	P101S	possibly damaging	Het
Gm379	G	A	X: 107,707,870 (GRCm39)	Q210*	probably null	Het
Grk4	A	T	5: 34,833,531 (GRCm39)		probably null	Het
Gtf3c4	A	G	2: 28,729,968 (GRCm39)	V91A	probably benign	Het
Hcfc2	G	T	10: 82,538,392 (GRCm39)	G143V	probably damaging	Het
Heatr4	A	C	12: 84,005,221 (GRCm39)	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,817,681 (GRCm39)	D97E	probably damaging	Het
Htr4	T	G	18: 62,561,193 (GRCm39)	F151L	probably benign	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824 (GRCm39)		probably null	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irs1	T	C	1: 82,267,182 (GRCm39)	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif26a	C	T	12: 112,141,974 (GRCm39)	R743C	probably damaging	Het
Kif28	A	G	1: 179,530,088 (GRCm39)	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,324,330 (GRCm39)	L696Q	probably benign	Het
Krtap5-1	T	C	7: 141,850,084 (GRCm39)		probably benign	Het
Lama2	A	C	10: 27,064,395 (GRCm39)	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,379,209 (GRCm39)	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,876,879 (GRCm39)	E422G	probably benign	Het
Man2b1	T	A	8: 85,813,451 (GRCm39)	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,162,422 (GRCm39)	D628V	possibly damaging	Het
Msantd5f6	T	A	4: 73,321,675 (GRCm39)	Y120F	probably damaging	Het
Myo18b	G	A	5: 112,840,624 (GRCm39)	R2390C	probably damaging	Het
Mypn	T	A	10: 62,959,176 (GRCm39)	R1048S	probably benign	Het
Napepld	A	G	5: 21,870,270 (GRCm39)	S383P	probably damaging	Het
Napsa	A	G	7: 44,231,160 (GRCm39)	T130A	probably damaging	Het
Nbr1	T	C	11: 101,465,978 (GRCm39)	I716T	probably damaging	Het
Nexn	A	T	3: 151,953,818 (GRCm39)	M212K	probably damaging	Het
Nlrp9b	T	A	7: 19,757,182 (GRCm39)	S140T	probably benign	Het
Nxpe2	T	C	9: 48,230,906 (GRCm39)	T488A	probably benign	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or10v1	A	T	19: 11,873,913 (GRCm39)	Y176F	probably benign	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or7g12	A	T	9: 18,900,192 (GRCm39)	K303*	probably null	Het
Or8k20	C	T	2: 86,106,190 (GRCm39)	V214I	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pan2	T	G	10: 128,144,237 (GRCm39)	L162R	probably damaging	Het
Parp1	G	T	1: 180,416,235 (GRCm39)	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,709,896 (GRCm39)	V473A	probably benign	Het
Plb1	A	T	5: 32,448,582 (GRCm39)	N350I	probably damaging	Het
Polr1a	A	G	6: 71,944,898 (GRCm39)	K1318R	probably benign	Het
Ppp1r18	C	T	17: 36,184,738 (GRCm39)	P130S	probably damaging	Het
Prss48	C	T	3: 85,905,614 (GRCm39)	W86*	probably null	Het
Rab3c	A	T	13: 110,220,744 (GRCm39)	I137N	probably damaging	Het
Rab3gap2	G	C	1: 184,954,099 (GRCm39)	R57P	probably benign	Het
Rad54l2	A	C	9: 106,570,916 (GRCm39)		probably null	Het
Ralgapb	C	A	2: 158,337,483 (GRCm39)	N1147K	probably benign	Het
Rfx7	C	T	9: 72,524,093 (GRCm39)	R428C	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Shprh	T	A	10: 11,059,541 (GRCm39)	Y1097*	probably null	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,097,876 (GRCm39)	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254 (GRCm39)	I286F	probably benign	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,865,882 (GRCm39)	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,569,900 (GRCm39)	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,914,346 (GRCm39)	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998 (GRCm39)	M462T	probably benign	Het
Tmem171	C	A	13: 98,822,924 (GRCm39)	G292*	probably null	Het
Tmtc2	G	T	10: 105,025,969 (GRCm39)	T833N	probably benign	Het
Tnc	G	T	4: 63,918,299 (GRCm39)	T1204K	probably benign	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Tnrc18	G	A	5: 142,800,895 (GRCm39)	S21F	probably damaging	Het
Tns4	T	C	11: 98,966,401 (GRCm39)	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948 (GRCm39)	Y472F	probably damaging	Het
Trak2	A	T	1: 58,958,014 (GRCm39)		probably null	Het
Trim33	T	A	3: 103,244,760 (GRCm39)	Y716N	probably damaging	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Ube2j2	A	G	4: 156,033,483 (GRCm39)	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889 (GRCm39)	I206T	possibly damaging	Het
Usp40	A	G	1: 87,909,778 (GRCm39)	F559L	probably benign	Het
Utp4	T	A	8: 107,638,982 (GRCm39)		probably null	Het
Vac14	A	G	8: 111,409,166 (GRCm39)	N524S	probably benign	Het
Vps13c	T	C	9: 67,801,334 (GRCm39)	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,317,231 (GRCm39)	R28*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511 (GRCm39)	Q205*	probably null	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
IGL03357:Thoc2l	APN	5	104,668,334 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGATTGTTGAATTAGGGCAAG -3'
(R):5'- TCGGAAGGCAATACAACCATTG -3'

Sequencing Primer
(F):5'- GGGCAAGATTTATCTGGAAATATCAC -3'
(R):5'- GTATTCACTCACAATGCAGCTATCAG -3'

Posted On

2014-06-30