Mutagenetix > Incidental Mutation

Incidental Mutation 'R6789:Thoc2l'

532929

Institutional Source

Beutler Lab

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 #

R6789 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104656216-104702073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104665555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 26 (F26L)

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: F26L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F26L

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,343,644 (GRCm39)	D442E	probably benign	Het
Arl6ip4	G	A	5: 124,254,665 (GRCm39)	G53R	probably damaging	Het
Asns	T	C	6: 7,675,344 (GRCm39)	T553A	probably benign	Het
Atp1a1	T	A	3: 101,493,614 (GRCm39)	N497Y	possibly damaging	Het
Birc2	T	C	9: 7,836,966 (GRCm39)		probably benign	Het
Catsperd	C	A	17: 56,961,426 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,406,210 (GRCm39)	Q2341K	possibly damaging	Het
Dydc2	C	A	14: 40,771,296 (GRCm39)	V128L	probably benign	Het
Dync2i2	A	G	2: 29,923,284 (GRCm39)		probably null	Het
Efna3	C	T	3: 89,223,769 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,143,686 (GRCm39)	E2790K	probably benign	Het
Fhip1a	A	T	3: 85,579,865 (GRCm39)	L780*	probably null	Het
Gm11569	C	A	11: 99,689,657 (GRCm39)		probably benign	Het
Gprc6a	C	T	10: 51,507,412 (GRCm39)	G39D	probably damaging	Het
Igkv6-17	A	G	6: 70,348,692 (GRCm39)	D21G	probably benign	Het
Klra4	T	C	6: 130,039,182 (GRCm39)	Q70R	probably damaging	Het
Krtap31-2	C	T	11: 99,827,549 (GRCm39)	S127F	possibly damaging	Het
Lingo4	G	T	3: 94,306,662 (GRCm39)		probably benign	Het
Lrp2bp	A	G	8: 46,466,151 (GRCm39)	K87E	possibly damaging	Het
Macf1	A	T	4: 123,266,231 (GRCm39)	M5333K	probably damaging	Het
Mmp13	A	T	9: 7,272,781 (GRCm39)	Y47F	probably benign	Het
Muc16	G	A	9: 18,471,282 (GRCm39)	P7261S	probably benign	Het
Nostrin	G	T	2: 69,005,856 (GRCm39)	M212I	probably benign	Het
Nr1h5	G	A	3: 102,865,677 (GRCm39)	T8M	possibly damaging	Het
Nup153	A	T	13: 46,870,792 (GRCm39)	L41H	probably damaging	Het
Or10b1	T	C	10: 78,355,802 (GRCm39)	L120P	noncoding transcript	Het
Or5b97	T	A	19: 12,878,653 (GRCm39)	I164L	probably benign	Het
Pappa	A	T	4: 65,099,278 (GRCm39)	D599V	probably damaging	Het
Pcdh18	G	A	3: 49,710,364 (GRCm39)	T317I	probably benign	Het
Pcsk5	T	A	19: 17,434,150 (GRCm39)	N1406I	possibly damaging	Het
Pik3c2a	A	T	7: 115,961,419 (GRCm39)	Y1027N	probably damaging	Het
Prpf6	T	A	2: 181,257,844 (GRCm39)	Y105*	probably null	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rnf8	T	A	17: 29,854,843 (GRCm39)	W433R	probably damaging	Het
Slc18b1	T	A	10: 23,692,227 (GRCm39)	V232D	probably benign	Het
Taf11	C	A	17: 28,126,492 (GRCm39)	A52S	probably benign	Het
Trav9-2	T	C	14: 53,828,819 (GRCm39)	L63P	possibly damaging	Het
Zfat	T	C	15: 67,956,235 (GRCm39)	Y1199C	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
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'- TGAGCTGGTCTTTCCTTGAAC -3'
(R):5'- GCCCAATGACCCCAATGTTTC -3'

Sequencing Primer
(F):5'- TTCCTTGAACCTCCTGGAAGCAAG -3'
(R):5'- CAATGTTTCTGGATCCAAGCG -3'

Posted On

2018-08-29