Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01544:Thoc7'

90272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thoc7

Ensembl Gene

ENSMUSG00000053453

Gene Name

THO complex 7

Synonyms

9230101K24Rik, 1500006O09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

IGL01544

Quality Score

Status

Chromosome

Chromosomal Location

8507911-8520751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 13953435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 72 (Y72D)

Ref Sequence

ENSEMBL: ENSMUSP00000153560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065865] [ENSMUST00000223832] [ENSMUST00000225891] [ENSMUST00000225325]

AlphaFold

Q7TMY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000065865
AA Change: Y81D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: Y81D

Domain	Start	End	E-Value	Type
Pfam:THOC7	7	139	9.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159275

Predicted Effect

probably benign
Transcript: ENSMUST00000223832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225401

Predicted Effect

probably damaging
Transcript: ENSMUST00000225891
AA Change: Y72D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225202

Predicted Effect

probably benign
Transcript: ENSMUST00000225590

Predicted Effect

unknown
Transcript: ENSMUST00000225559
AA Change: Y63D

Predicted Effect

probably damaging
Transcript: ENSMUST00000225325
AA Change: Y77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Bbx	C	A	16: 50,095,140 (GRCm39)	E59*	probably null	Het
Cep120	C	T	18: 53,819,033 (GRCm39)	R886H	probably benign	Het
Cep350	C	A	1: 155,828,933 (GRCm39)	V324L	probably damaging	Het
Cry1	T	A	10: 84,982,360 (GRCm39)	K329*	probably null	Het
Dhtkd1	T	C	2: 5,918,342 (GRCm39)	N627S	probably benign	Het
Dpp8	A	T	9: 64,962,270 (GRCm39)	T437S	probably benign	Het
Elovl1	G	A	4: 118,288,107 (GRCm39)		probably null	Het
Heca	A	G	10: 17,791,715 (GRCm39)	Y114H	probably damaging	Het
Hrh4	A	G	18: 13,148,950 (GRCm39)	N104S	probably benign	Het
Ift80	T	A	3: 68,898,115 (GRCm39)	K73N	probably benign	Het
Ina	T	C	19: 47,003,948 (GRCm39)	V252A	possibly damaging	Het
Klhl36	A	G	8: 120,596,755 (GRCm39)	E152G	possibly damaging	Het
Lamp5	T	A	2: 135,910,990 (GRCm39)	L241Q	probably damaging	Het
Lrp4	G	A	2: 91,307,896 (GRCm39)	R447H	probably damaging	Het
Mmp24	G	A	2: 155,641,807 (GRCm39)	G212R	probably damaging	Het
Mpp3	A	G	11: 101,909,485 (GRCm39)	V191A	possibly damaging	Het
Mtmr4	A	G	11: 87,488,437 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,661,854 (GRCm39)	S312*	probably null	Het
Neb	T	A	2: 52,182,917 (GRCm39)	I1010F	possibly damaging	Het
Nes	T	C	3: 87,885,271 (GRCm39)	S1177P	possibly damaging	Het
Noct	T	C	3: 51,155,469 (GRCm39)	V79A	probably damaging	Het
Rad1	A	G	15: 10,490,465 (GRCm39)	D114G	probably damaging	Het
Slc26a9	T	C	1: 131,687,233 (GRCm39)		probably null	Het
Sqor	G	A	2: 122,634,266 (GRCm39)		probably benign	Het
Sspo	G	T	6: 48,467,953 (GRCm39)	W4309L	probably damaging	Het
Thra	A	G	11: 98,647,754 (GRCm39)	I43V	possibly damaging	Het
Timm44	G	T	8: 4,325,888 (GRCm39)		probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Trpc4	T	C	3: 54,209,567 (GRCm39)	M644T	probably damaging	Het
Wdr72	C	T	9: 74,056,007 (GRCm39)	L300F	probably damaging	Het
Wrn	T	C	8: 33,814,554 (GRCm39)	T54A	probably benign	Het

Other mutations in Thoc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02630:Thoc7	APN	14	13,953,154 (GRCm38)	missense	probably damaging	0.99
IGL02737:Thoc7	APN	14	13,953,443 (GRCm38)	missense	possibly damaging	0.66
R0526:Thoc7	UTSW	14	13,949,282 (GRCm38)	missense	probably benign	0.00
R4917:Thoc7	UTSW	14	13,953,154 (GRCm38)	missense	probably damaging	0.99
R4918:Thoc7	UTSW	14	13,953,154 (GRCm38)	missense	probably damaging	0.99
R4960:Thoc7	UTSW	14	13,953,460 (GRCm38)	missense	probably benign	0.02
R6496:Thoc7	UTSW	14	13,954,593 (GRCm38)	missense	possibly damaging	0.95
R7024:Thoc7	UTSW	14	13,953,528 (GRCm38)	missense	probably damaging	0.98
R7500:Thoc7	UTSW	14	13,951,204 (GRCm38)	critical splice donor site	probably null
R7619:Thoc7	UTSW	14	13,961,819 (GRCm38)	start gained	probably null
Z1177:Thoc7	UTSW	14	13,954,585 (GRCm38)	missense	probably benign

Posted On

2013-12-03