Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:Thoc2l'

701474

Institutional Source

Beutler Lab

Gene Symbol

Thoc2l

Ensembl Gene

ENSMUSG00000079065

Gene Name

THO complex subunit 2-like

Synonyms

Gm3179, BC005561

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.930) question?

Stock #

R9250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104656216-104702073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104667320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 614 (Y614C)

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: Y614C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: Y614C

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
AAdacl4fm3	A	T	4: 144,442,011 (GRCm39)	I80K	probably benign	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,258,259 (GRCm39)	S119P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,928,909 (GRCm39)	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Sf1	C	T	19: 6,424,764 (GRCm39)	P473L	unknown	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp17le	T	G	7: 104,418,839 (GRCm39)	Q101P	probably damaging	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	probably 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
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
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'- ACTTACAACAGCCATCCACTTTTAG -3'
(R):5'- GCCTGCCTTTAACTGATTGGC -3'

Sequencing Primer
(F):5'- TAGATCGAGCCAAATACATCATGAAG -3'
(R):5'- TTGGCTACATACTGAAGAAGACC -3'

Posted On

2022-03-25