Mutagenetix > Incidental Mutation

Incidental Mutation 'R2096:Thoc2l'

232098

Institutional Source

Beutler Lab

Gene Symbol

Thoc2l

Ensembl Gene

ENSMUSG00000079065

Gene Name

THO complex subunit 2-like

Synonyms

Gm3179, BC005561

MMRRC Submission

040100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R2096 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104656216-104702073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104667835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 786 (S786P)

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: S786P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: S786P

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,709,195 (GRCm39)	S120P	probably benign	Het
Actr3b	T	A	5: 26,036,743 (GRCm39)	Y185*	probably null	Het
Atg101	T	A	15: 101,188,382 (GRCm39)	H162Q	possibly damaging	Het
Btf3	T	A	13: 98,449,659 (GRCm39)	Q109L	possibly damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Capn7	T	G	14: 31,071,844 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,155,537 (GRCm39)	V17A	probably benign	Het
Cenpf	A	G	1: 189,385,656 (GRCm39)	V2208A	possibly damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Comp	T	C	8: 70,828,713 (GRCm39)	C182R	probably damaging	Het
Ctsl	A	G	13: 64,516,840 (GRCm39)		probably null	Het
Cyp3a44	G	T	5: 145,725,215 (GRCm39)	Q329K	probably damaging	Het
Dcpp1	A	T	17: 24,099,971 (GRCm39)		probably null	Het
Dhx38	A	G	8: 110,280,891 (GRCm39)	V831A	probably damaging	Het
Dkk2	T	C	3: 131,791,858 (GRCm39)	M22T	probably benign	Het
Dnah2	C	T	11: 69,346,742 (GRCm39)	E2615K	probably damaging	Het
Dpy19l3	A	G	7: 35,426,713 (GRCm39)		probably null	Het
Gm12888	T	G	4: 121,176,655 (GRCm39)	I49L	probably benign	Het
Insyn2b	C	A	11: 34,352,936 (GRCm39)	S326Y	probably benign	Het
Kif15	T	A	9: 122,815,252 (GRCm39)	M194K	probably damaging	Het
Mael	G	T	1: 166,053,244 (GRCm39)	Q254K	probably benign	Het
Nek9	T	C	12: 85,361,322 (GRCm39)	D461G	probably benign	Het
Nlrp12	T	C	7: 3,281,825 (GRCm39)	N819S	probably benign	Het
Ntng1	T	A	3: 109,739,871 (GRCm39)	N390Y	probably damaging	Het
Or5g25	A	G	2: 85,478,434 (GRCm39)	I77T	probably benign	Het
P2ry14	C	T	3: 59,022,738 (GRCm39)	V250I	probably damaging	Het
Pcnx2	A	T	8: 126,485,987 (GRCm39)	D1870E	probably benign	Het
Phf2	T	A	13: 48,985,589 (GRCm39)	K64*	probably null	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Ppa2	A	G	3: 133,032,445 (GRCm39)	T97A	probably damaging	Het
Psd	G	A	19: 46,313,088 (GRCm39)		probably null	Het
Psg23	T	A	7: 18,348,668 (GRCm39)	E46D	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab11b	A	G	17: 33,967,976 (GRCm39)	Y74H	probably damaging	Het
Rfc3	A	T	5: 151,568,383 (GRCm39)	S194R	probably benign	Het
Sema4d	A	T	13: 51,864,037 (GRCm39)	I414N	probably damaging	Het
Serpinb1a	A	T	13: 33,031,437 (GRCm39)	D120E	probably damaging	Het
Snai2	T	A	16: 14,524,861 (GRCm39)	H122Q	possibly damaging	Het
Spats2l	T	C	1: 57,985,458 (GRCm39)	S504P	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Sspo	G	T	6: 48,438,608 (GRCm39)	V1559L	probably benign	Het
Tas2r118	T	G	6: 23,969,912 (GRCm39)	I50L	possibly damaging	Het
Tdrd3	C	T	14: 87,743,788 (GRCm39)	Q573*	probably null	Het
Tlnrd1	G	A	7: 83,532,062 (GRCm39)	T123I	probably benign	Het
Tmem214	T	A	5: 31,033,714 (GRCm39)	L555H	probably damaging	Het
Tmprss12	T	A	15: 100,183,117 (GRCm39)	M153K	probably benign	Het
Tmprss9	G	A	10: 80,725,268 (GRCm39)	G410S	probably damaging	Het
Trpm6	T	A	19: 18,803,116 (GRCm39)	M853K	probably damaging	Het
Vmn1r35	A	G	6: 66,655,929 (GRCm39)	I247T	possibly damaging	Het
Zcchc7	C	A	4: 44,931,059 (GRCm39)	P404T	probably damaging	Het
Zzef1	T	C	11: 72,763,465 (GRCm39)	F1371L	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
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
R1903:Thoc2l	UTSW	5	104,666,196 (GRCm39)	missense	probably benign	0.00
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'- AAGGATGCACTACTGGACCATG -3'
(R):5'- CTTCATGGACAGGAGCCATC -3'

Sequencing Primer
(F):5'- GATGCACTACTGGACCATGATCTTG -3'
(R):5'- TGGACAGGAGCCATCACCATC -3'

Posted On

2014-09-18