Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Thoc5'

207253

Institutional Source

Beutler Lab

Gene Symbol

Thoc5

Ensembl Gene

ENSMUSG00000034274

Gene Name

THO complex 5

Synonyms

Fmip, PK1.3, 1700060C24Rik, A430085L24Rik

MMRRC Submission

039857-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4845339-4878867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4864608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 351 (D351E)

Ref Sequence

ENSEMBL: ENSMUSP00000045580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038237] [ENSMUST00000101615] [ENSMUST00000142543]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038237
AA Change: D351E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: D351E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000101615
AA Change: D303E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: D303E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121125

Predicted Effect

probably benign
Transcript: ENSMUST00000142543
AA Change: D226E

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

SMART Domains

Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274
AA Change: D226E

Domain	Start	End	E-Value	Type
Pfam:FimP	1	301	1.3e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155872

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,350 (GRCm39)	S738P	probably benign	Het
Abi3bp	C	A	16: 56,408,348 (GRCm39)	P261Q	probably damaging	Het
Adam19	A	G	11: 46,018,105 (GRCm39)	N389S	probably damaging	Het
Adgrv1	A	T	13: 81,637,196 (GRCm39)	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,017,432 (GRCm39)	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,619,383 (GRCm39)	V734M	probably damaging	Het
Arsg	T	C	11: 109,454,100 (GRCm39)		probably null	Het
Atp8b4	C	T	2: 126,245,301 (GRCm39)	G283R	probably benign	Het
B3galnt2	T	G	13: 14,166,119 (GRCm39)	L338*	probably null	Het
Cdc14a	A	T	3: 116,216,296 (GRCm39)	Y1*	probably null	Het
Ceacam16	T	C	7: 19,592,803 (GRCm39)	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,220,323 (GRCm39)	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,223,274 (GRCm39)	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,579,469 (GRCm39)	V1919F	probably damaging	Het
Colgalt1	T	C	8: 72,075,781 (GRCm39)	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,727 (GRCm39)	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,089,846 (GRCm39)	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 126,884,952 (GRCm39)	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,248,378 (GRCm39)	M94T	probably benign	Het
Dip2a	A	G	10: 76,153,797 (GRCm39)	S178P	probably damaging	Het
Dlec1	T	C	9: 118,967,858 (GRCm39)	V1220A	probably benign	Het
Dpysl2	T	C	14: 67,105,840 (GRCm39)		probably benign	Het
E2f6	T	C	12: 16,868,884 (GRCm39)	V69A	probably benign	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	T	C	1: 71,663,418 (GRCm39)	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481 (GRCm39)	V83M	probably damaging	Het
Gfral	T	C	9: 76,100,485 (GRCm39)	N318D	probably benign	Het
Gm5611	A	T	9: 16,942,073 (GRCm39)		noncoding transcript	Het
Gpat3	A	T	5: 101,041,046 (GRCm39)	M369L	probably benign	Het
Grik5	T	C	7: 24,745,726 (GRCm39)	D449G	possibly damaging	Het
Gucy2g	T	A	19: 55,211,362 (GRCm39)	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,352,434 (GRCm39)	T164A	probably benign	Het
Herc1	T	A	9: 66,404,881 (GRCm39)	C4484S	possibly damaging	Het
Hira	T	C	16: 18,766,164 (GRCm39)	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,194,307 (GRCm39)	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,593,866 (GRCm39)	S141P	probably damaging	Het
Kank1	C	A	19: 25,388,396 (GRCm39)	Q690K	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kifbp	T	C	10: 62,395,106 (GRCm39)	Y512C	probably damaging	Het
Lepr	A	C	4: 101,592,874 (GRCm39)	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,607,922 (GRCm39)	I29V	probably benign	Het
Lrriq1	T	G	10: 102,997,620 (GRCm39)	T1332P	probably benign	Het
Mrps15	A	G	4: 125,949,200 (GRCm39)	K223E	probably damaging	Het
Mrps7	T	A	11: 115,497,811 (GRCm39)	N225K	probably benign	Het
Nav3	T	A	10: 109,659,184 (GRCm39)	D811V	probably damaging	Het
Ndst3	T	A	3: 123,342,587 (GRCm39)	R741S	probably damaging	Het
Nos3	T	C	5: 24,575,131 (GRCm39)	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,686,444 (GRCm39)	V188A	probably damaging	Het
Or13n4	T	C	7: 106,423,317 (GRCm39)	R139G	probably benign	Het
Or5p50	T	A	7: 107,422,578 (GRCm39)	I33F	probably benign	Het
Or8j3b	T	C	2: 86,205,487 (GRCm39)	K90E	possibly damaging	Het
Pdia4	A	T	6: 47,773,695 (GRCm39)	C551*	probably null	Het
Pex13	A	G	11: 23,605,513 (GRCm39)	F239S	probably damaging	Het
Pigq	A	G	17: 26,153,980 (GRCm39)	M273T	probably benign	Het
Plppr2	C	T	9: 21,859,047 (GRCm39)	P388L	probably damaging	Het
Polr3b	C	T	10: 84,528,786 (GRCm39)	Q737*	probably null	Het
Ppfibp1	T	C	6: 146,923,757 (GRCm39)		probably null	Het
Ppfibp2	C	A	7: 107,236,504 (GRCm39)	D17E	probably damaging	Het
Pramel34	A	T	5: 93,785,545 (GRCm39)	I245K	probably benign	Het
Prr35	T	C	17: 26,165,691 (GRCm39)	D532G	possibly damaging	Het
Ptpn13	A	G	5: 103,691,325 (GRCm39)	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,692,018 (GRCm39)	S168T	probably damaging	Het
Rbp3	T	C	14: 33,676,601 (GRCm39)	V183A	probably benign	Het
Shprh	T	C	10: 11,062,655 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,875,230 (GRCm39)	H24R	probably damaging	Het
Slc7a13	A	T	4: 19,819,046 (GRCm39)	H82L	probably benign	Het
Sptbn2	A	G	19: 4,782,569 (GRCm39)	I502V	probably benign	Het
Syne2	C	T	12: 76,156,636 (GRCm39)	R6811C	probably damaging	Het
Syt12	A	G	19: 4,506,911 (GRCm39)	V78A	probably benign	Het
Tbck	T	A	3: 132,543,772 (GRCm39)	D874E	probably benign	Het
Tesc	A	T	5: 118,184,394 (GRCm39)	I25L	probably damaging	Het
Tor1aip1	A	T	1: 155,883,308 (GRCm39)	M180K	probably damaging	Het
Trps1	T	C	15: 50,524,532 (GRCm39)	S842G	probably damaging	Het
Unc79	A	T	12: 103,100,737 (GRCm39)	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,403,561 (GRCm39)	T144A	probably benign	Het
Vwa8	T	C	14: 79,318,576 (GRCm39)	F1046S	probably benign	Het
Wdr26	A	T	1: 181,019,340 (GRCm39)	W346R	probably damaging	Het
Zfp740	T	A	15: 102,116,336 (GRCm39)	V22E	probably damaging	Het
Zw10	C	A	9: 48,981,041 (GRCm39)	S480R	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
R1912:Thoc5	UTSW	11	4,865,561 (GRCm39)	missense	probably benign	0.15
R3001:Thoc5	UTSW	11	4,878,688 (GRCm39)	missense	probably benign
R3002: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'- AGGAGGGCTGAATACGTGTC -3'
(R):5'- TGACTTCCATATGCCTGCTG -3'

Sequencing Primer
(F):5'- ATACGTGTCTGCTGGGACAAG -3'
(R):5'- GCCTGCTGCAGTGGTAC -3'

Posted On

2014-06-23