Mutagenetix > Incidental Mutation

Incidental Mutation 'R3002:Thoc5'

257292

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

Fmip, PK1.3, 1700060C24Rik, A430085L24Rik

MMRRC Submission

040531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4845339-4878867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4878688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 620 (M620V)

Ref Sequence

ENSEMBL: ENSMUSP00000099137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000101615]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038237
AA Change: M668V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: M668V

Domain	Start	End	E-Value	Type
Pfam:FimP	97	452	1.1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101615
AA Change: M620V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: M620V

Domain	Start	End	E-Value	Type
low complexity region	34	41	N/A	INTRINSIC
Pfam:FimP	48	405	7.5e-142	PFAM

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (41/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,973,802 (GRCm39)	W40R	possibly damaging	Het
A2m	A	G	6: 121,638,406 (GRCm39)	S873G	possibly damaging	Het
Acd	C	T	8: 106,426,913 (GRCm39)		probably null	Het
Acly	T	C	11: 100,395,053 (GRCm39)	K469E	possibly damaging	Het
Adcy6	T	C	15: 98,494,541 (GRCm39)	T767A	probably benign	Het
Bnip3	T	C	7: 138,496,430 (GRCm39)	I93V	probably benign	Het
Casq2	A	G	3: 102,052,517 (GRCm39)	D269G	probably damaging	Het
Ccdc180	A	G	4: 45,899,988 (GRCm39)	D182G	probably benign	Het
Cep112	A	G	11: 108,331,329 (GRCm39)	E178G	probably damaging	Het
Chrd	T	G	16: 20,556,195 (GRCm39)	Y585*	probably null	Het
Cnksr3	T	C	10: 7,102,856 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,184 (GRCm39)	F1072L	probably damaging	Het
Dnai2	C	T	11: 114,641,297 (GRCm39)	P374L	probably damaging	Het
Eif4g1	T	A	16: 20,511,134 (GRCm39)	F1289I	probably damaging	Het
Eprs1	T	C	1: 185,156,588 (GRCm39)		probably null	Het
Fasn	T	C	11: 120,700,671 (GRCm39)	D2114G	probably benign	Het
Fbxl17	T	A	17: 63,532,072 (GRCm39)	E590D	probably damaging	Het
Flnb	G	T	14: 7,907,162 (GRCm38)	R1245L	probably benign	Het
Folh1	A	C	7: 86,372,519 (GRCm39)	I678M	probably damaging	Het
Frrs1l	G	T	4: 56,990,139 (GRCm39)		probably benign	Het
Hal	G	A	10: 93,343,381 (GRCm39)	A542T	probably damaging	Het
Hs3st2	T	A	7: 121,099,910 (GRCm39)	M252K	probably damaging	Het
Il27ra	G	T	8: 84,758,660 (GRCm39)	S499*	probably null	Het
Klhdc1	T	A	12: 69,302,983 (GRCm39)	V173D	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lnx2	A	G	5: 146,955,825 (GRCm39)	V657A	probably benign	Het
Lrig1	G	A	6: 94,585,758 (GRCm39)	S810L	probably damaging	Het
Lyst	A	T	13: 13,871,290 (GRCm39)	M2676L	probably benign	Het
Mindy4	T	A	6: 55,195,349 (GRCm39)	S188T	probably benign	Het
Mrgprb3	C	T	7: 48,293,232 (GRCm39)	M106I	probably benign	Het
Ncam1	A	G	9: 49,468,526 (GRCm39)	I311T	probably damaging	Het
Ndufa8	T	A	2: 35,926,571 (GRCm39)	E155V	possibly damaging	Het
Nr4a1	A	G	15: 101,168,853 (GRCm39)		probably null	Het
Or2a12	A	G	6: 42,904,888 (GRCm39)	H241R	probably damaging	Het
Orc3	T	C	4: 34,571,790 (GRCm39)	T660A	probably benign	Het
Otub2	T	C	12: 103,370,536 (GRCm39)	S273P	probably damaging	Het
Otulinl	T	C	15: 27,664,792 (GRCm39)	T55A	probably benign	Het
Phf11c	A	G	14: 59,622,289 (GRCm39)	L241P	probably damaging	Het
Pik3ca	T	A	3: 32,516,946 (GRCm39)	I1058N	probably damaging	Het
Pkd2l1	A	G	19: 44,143,996 (GRCm39)	F359S	possibly damaging	Het
Plxnc1	A	T	10: 94,629,080 (GRCm39)	F1565I	probably damaging	Het
Polr1a	A	G	6: 71,890,000 (GRCm39)	N73S	probably benign	Het
Polr1a	T	A	6: 71,942,628 (GRCm39)	V1156E	probably benign	Het
Pon2	A	G	6: 5,268,976 (GRCm39)		probably null	Het
Ptcd1	G	A	5: 145,096,386 (GRCm39)	L236F	probably damaging	Het
Rgl2	A	G	17: 34,151,579 (GRCm39)	I208V	probably benign	Het
Rhox2e	C	A	X: 36,712,516 (GRCm39)	P69Q	probably damaging	Het
Rptor	G	A	11: 119,763,197 (GRCm39)	R927Q	possibly damaging	Het
Sec14l5	A	G	16: 4,989,746 (GRCm39)	Y230C	probably damaging	Het
Sele	G	T	1: 163,881,140 (GRCm39)	G447C	probably damaging	Het
Slc17a1	G	A	13: 24,062,564 (GRCm39)		probably null	Het
Slc2a4	A	T	11: 69,836,751 (GRCm39)	Y159*	probably null	Het
Slitrk5	A	G	14: 111,917,014 (GRCm39)	K213E	probably damaging	Het
Tdrd1	C	A	19: 56,850,182 (GRCm39)	Y981*	probably null	Het
Tex15	T	C	8: 34,064,556 (GRCm39)	Y1329H	probably benign	Het
Tgif2	C	G	2: 156,686,114 (GRCm39)	S2W	probably damaging	Het
Tmeff2	C	T	1: 51,220,994 (GRCm39)	A323V	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	C	4: 3,569,588 (GRCm39)	L34W	probably damaging	Het
Tmtc4	A	T	14: 123,170,230 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,766,368 (GRCm39)		probably null	Het
Tut4	G	A	4: 108,370,125 (GRCm39)	E714K	probably damaging	Het
Tyk2	C	A	9: 21,020,617 (GRCm39)	R938L	probably benign	Het
Usp33	A	T	3: 152,063,579 (GRCm39)	T18S	probably damaging	Het
V1rd19	A	T	7: 23,703,310 (GRCm39)	I259F	probably benign	Het
Vmn2r24	A	C	6: 123,781,231 (GRCm39)	Q479P	probably benign	Het
Vmn2r98	A	G	17: 19,286,125 (GRCm39)	M208V	probably benign	Het
Wfdc6a	C	T	2: 164,422,225 (GRCm39)	V125I	probably benign	Het
Zkscan17	A	G	11: 59,378,077 (GRCm39)	C369R	probably damaging	Het

Other mutations in Thoc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Thoc5	APN	11	4,868,147 (GRCm39)	missense	probably damaging	0.96
IGL02039:Thoc5	APN	11	4,872,027 (GRCm39)	critical splice donor site	probably null
IGL02227:Thoc5	APN	11	4,876,217 (GRCm39)	missense	probably benign	0.02
IGL02970:Thoc5	APN	11	4,854,201 (GRCm39)	missense	probably damaging	0.99
R0398:Thoc5	UTSW	11	4,871,978 (GRCm39)	missense	possibly damaging	0.84
R0401:Thoc5	UTSW	11	4,852,213 (GRCm39)	utr 5 prime	probably benign
R0453:Thoc5	UTSW	11	4,868,217 (GRCm39)	missense	possibly damaging	0.60
R1223:Thoc5	UTSW	11	4,871,922 (GRCm39)	missense	probably benign	0.40
R1438:Thoc5	UTSW	11	4,861,427 (GRCm39)	splice site	probably benign
R1661:Thoc5	UTSW	11	4,869,792 (GRCm39)	missense	probably benign	0.04
R1665:Thoc5	UTSW	11	4,869,792 (GRCm39)	missense	probably benign	0.04
R1776:Thoc5	UTSW	11	4,864,517 (GRCm39)	splice site	probably benign
R1830:Thoc5	UTSW	11	4,864,608 (GRCm39)	missense	probably benign	0.02
R1912:Thoc5	UTSW	11	4,865,561 (GRCm39)	missense	probably benign	0.15
R3001:Thoc5	UTSW	11	4,878,688 (GRCm39)	missense	probably benign
R3783:Thoc5	UTSW	11	4,870,372 (GRCm39)	unclassified	probably benign
R4534:Thoc5	UTSW	11	4,874,807 (GRCm39)	nonsense	probably null
R4619:Thoc5	UTSW	11	4,876,218 (GRCm39)	missense	probably damaging	0.96
R4747:Thoc5	UTSW	11	4,854,187 (GRCm39)	missense	probably damaging	0.99
R5106:Thoc5	UTSW	11	4,860,630 (GRCm39)	missense	probably damaging	1.00
R5310:Thoc5	UTSW	11	4,860,648 (GRCm39)	missense	probably damaging	1.00
R5914:Thoc5	UTSW	11	4,870,416 (GRCm39)	missense	possibly damaging	0.58
R5936:Thoc5	UTSW	11	4,854,133 (GRCm39)	missense	probably damaging	1.00
R6167:Thoc5	UTSW	11	4,865,497 (GRCm39)	missense	probably benign	0.12
R6209:Thoc5	UTSW	11	4,855,697 (GRCm39)	missense	probably damaging	1.00
R6243:Thoc5	UTSW	11	4,869,753 (GRCm39)	missense	possibly damaging	0.59
R6504:Thoc5	UTSW	11	4,874,815 (GRCm39)	nonsense	probably null
R6833:Thoc5	UTSW	11	4,869,804 (GRCm39)	missense	probably damaging	1.00
R6874:Thoc5	UTSW	11	4,851,261 (GRCm39)	missense	probably damaging	1.00
R7048:Thoc5	UTSW	11	4,876,237 (GRCm39)	critical splice donor site	probably null
R7197:Thoc5	UTSW	11	4,865,563 (GRCm39)	missense	probably benign	0.01
R7753:Thoc5	UTSW	11	4,852,156 (GRCm39)	missense	probably damaging	0.99
R7828:Thoc5	UTSW	11	4,852,306 (GRCm39)	start gained	probably benign
R8416:Thoc5	UTSW	11	4,876,068 (GRCm39)	missense	probably benign	0.41
R8428:Thoc5	UTSW	11	4,876,115 (GRCm39)	missense	probably damaging	0.99
R8673:Thoc5	UTSW	11	4,876,061 (GRCm39)	missense	possibly damaging	0.52
R8964:Thoc5	UTSW	11	4,860,647 (GRCm39)	missense	possibly damaging	0.80
R9214:Thoc5	UTSW	11	4,864,303 (GRCm39)	missense	probably benign	0.13
R9651:Thoc5	UTSW	11	4,849,883 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GGTATCACTCCTTCACCAGTGTG -3'
(R):5'- TCATGCTACCATGGTCCCAC -3'

Sequencing Primer
(F):5'- CCAGTGTGGTCTGCTTTCTCG -3'
(R):5'- GGAGCTACAAACAGAGTCCATTTGTC -3'

Posted On

2015-01-11