Mutagenetix > Incidental Mutation

Incidental Mutation 'R0842:Thoc2l'

77203

Institutional Source

Beutler Lab

Gene Symbol

Thoc2l

Ensembl Gene

ENSMUSG00000079065

Gene Name

THO complex subunit 2-like

Synonyms

Gm3179, BC005561

MMRRC Submission

039021-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0842 (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 104667066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 529 (N529K)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096452
AA Change: N529K

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: N529K

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: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl8	C	A	9: 21,746,972 (GRCm39)	Y53*	probably null	Het
Apbb1ip	G	A	2: 22,757,678 (GRCm39)	R432Q	possibly damaging	Het
Catsperb	A	T	12: 101,429,307 (GRCm39)	Q160L	probably damaging	Het
Cdhr18	G	A	14: 13,856,686 (GRCm38)	S475L	probably benign	Het
Cilp2	T	C	8: 70,335,768 (GRCm39)	Y410C	probably damaging	Het
Cntnap5a	G	A	1: 116,369,953 (GRCm39)	G857S	probably damaging	Het
D630045J12Rik	A	T	6: 38,125,400 (GRCm39)	V1538E	probably damaging	Het
Dnah7a	A	G	1: 53,540,833 (GRCm39)	S2514P	possibly damaging	Het
Eme1	C	T	11: 94,541,700 (GRCm39)	A41T	probably benign	Het
F11	T	C	8: 45,705,196 (GRCm39)	Y115C	probably damaging	Het
Fap	A	T	2: 62,367,345 (GRCm39)	W313R	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Ggt6	T	A	11: 72,328,088 (GRCm39)	L158*	probably null	Het
Herc2	A	C	7: 55,771,453 (GRCm39)	I1072L	probably benign	Het
Hhat	T	C	1: 192,408,639 (GRCm39)	N164S	probably benign	Het
Klrb1	A	G	6: 128,687,008 (GRCm39)		probably null	Het
L3mbtl4	T	A	17: 68,793,957 (GRCm39)	D320E	probably benign	Het
Lyst	C	A	13: 13,852,826 (GRCm39)	Y2275*	probably null	Het
Map4k3	T	C	17: 80,913,412 (GRCm39)	N611S	probably benign	Het
Morc3	T	C	16: 93,670,284 (GRCm39)		probably null	Het
Mtr	A	C	13: 12,215,133 (GRCm39)	Y864D	probably damaging	Het
Myh2	C	T	11: 67,070,350 (GRCm39)	A431V	possibly damaging	Het
Myo9a	C	A	9: 59,778,350 (GRCm39)	Q1369K	probably benign	Het
Nalf1	T	A	8: 9,820,114 (GRCm39)	D302V	probably benign	Het
Nat3	T	C	8: 68,000,649 (GRCm39)	I176T	probably benign	Het
Ncapd3	C	T	9: 26,948,380 (GRCm39)	T54I	probably benign	Het
Nfyc	C	A	4: 120,616,574 (GRCm39)	E281D	probably benign	Het
Nlrp14	A	G	7: 106,782,342 (GRCm39)	D513G	probably benign	Het
Pacsin2	T	C	15: 83,263,382 (GRCm39)	E83G	probably damaging	Het
Plagl1	G	T	10: 13,004,298 (GRCm39)		probably benign	Het
Pmpcb	T	C	5: 21,953,772 (GRCm39)	L340P	possibly damaging	Het
Pou2af3	T	C	9: 51,183,668 (GRCm39)	E102G	probably benign	Het
Pou2f2	A	T	7: 24,796,355 (GRCm39)	L364Q	probably damaging	Het
Rab1b	A	T	19: 5,154,697 (GRCm39)	I84N	probably damaging	Het
Ric3	T	C	7: 108,638,087 (GRCm39)	Y222C	probably damaging	Het
Samhd1	A	G	2: 156,965,251 (GRCm39)	V188A	probably damaging	Het
Socs4	T	A	14: 47,527,426 (GRCm39)	H107Q	probably damaging	Het
Tex15	T	A	8: 34,061,575 (GRCm39)	I335K	possibly damaging	Het
Thop1	C	A	10: 80,911,411 (GRCm39)	T99K	probably damaging	Het
Tnik	A	G	3: 28,648,235 (GRCm39)	E429G	possibly damaging	Het
Vmn2r106	T	A	17: 20,488,465 (GRCm39)	I645F	probably damaging	Het
Zscan29	T	A	2: 120,991,960 (GRCm39)	R609S	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAAAGGCTCACCTGTCAATG -3'
(R):5'- GAAACTAGCCAGACTCTGAAGCCAG -3'

Sequencing Primer
(F):5'- CGCATAGGCAAGTCATTTATGAAG -3'
(R):5'- TTTCAATGAGTCTACCACAGGGG -3'

Posted On

2013-10-16