Mutagenetix > Incidental Mutation

Incidental Mutation 'R6105:Zc3hav1l'

485464

Institutional Source

Beutler Lab

Gene Symbol

Zc3hav1l

Ensembl Gene

ENSMUSG00000047749

Gene Name

zinc finger CCCH-type, antiviral 1-like

Synonyms

B130055L09Rik, E430016P22Rik

MMRRC Submission

044255-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6105 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

38264331-38276194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38270012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 279 (V279A)

Ref Sequence

ENSEMBL: ENSMUSP00000062475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058524]

AlphaFold

Q8BFR1

Predicted Effect

probably benign
Transcript: ENSMUST00000058524
AA Change: V279A

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

SMART Domains

Protein: ENSMUSP00000062475
Gene: ENSMUSG00000047749
AA Change: V279A

Domain	Start	End	E-Value	Type
low complexity region	63	81	N/A	INTRINSIC
internal_repeat_1	106	133	4.92e-5	PROSPERO
internal_repeat_1	193	220	4.92e-5	PROSPERO

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,347,812 (GRCm39)	M3555T	probably damaging	Het
Adam9	A	T	8: 25,460,775 (GRCm39)	C570S	probably damaging	Het
Adh6b	T	A	3: 138,063,471 (GRCm39)	I350K	possibly damaging	Het
Ahnak	G	A	19: 8,981,463 (GRCm39)	V916I	probably benign	Het
Aldh4a1	C	T	4: 139,365,806 (GRCm39)	P266S	possibly damaging	Het
Cnot7	C	T	8: 40,963,078 (GRCm39)	R32Q	probably benign	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Glul	T	A	1: 153,782,177 (GRCm39)	Y137*	probably null	Het
Ipo8	A	G	6: 148,700,168 (GRCm39)	Y570H	probably damaging	Het
Kif2b	A	G	11: 91,466,814 (GRCm39)	S490P	probably benign	Het
Kxd1	A	T	8: 70,972,589 (GRCm39)	N33K	probably benign	Het
Man2a2	T	C	7: 80,016,749 (GRCm39)	D355G	probably damaging	Het
Map6	T	C	7: 98,917,314 (GRCm39)	V29A	probably damaging	Het
Mtmr3	T	C	11: 4,435,432 (GRCm39)	D1116G	probably damaging	Het
Or4p23	T	A	2: 88,577,184 (GRCm39)	H16L	probably benign	Het
Or8b52	A	G	9: 38,576,916 (GRCm39)	S75P	probably damaging	Het
Or8d2b	T	C	9: 38,788,604 (GRCm39)	L44P	possibly damaging	Het
Pak1ip1	T	A	13: 41,158,361 (GRCm39)	L78Q	probably damaging	Het
Phf10	C	T	17: 15,174,387 (GRCm39)		probably null	Het
Pikfyve	A	G	1: 65,303,504 (GRCm39)		probably null	Het
Pkd1l3	A	G	8: 110,367,478 (GRCm39)	D1225G	probably damaging	Het
Postn	A	G	3: 54,279,641 (GRCm39)		probably null	Het
Slc22a30	T	C	19: 8,315,232 (GRCm39)		probably null	Het
Specc1l	T	C	10: 75,084,466 (GRCm39)	S730P	probably damaging	Het
Steap2	T	A	5: 5,725,891 (GRCm39)	I378F	possibly damaging	Het
Sult4a1	T	A	15: 83,970,821 (GRCm39)	K195*	probably null	Het
Tgfb1i1	T	A	7: 127,847,589 (GRCm39)		probably null	Het
Thbs4	G	T	13: 92,911,993 (GRCm39)	Q246K	possibly damaging	Het
Tnfsf10	A	G	3: 27,389,698 (GRCm39)	Y253C	probably damaging	Het
Tnpo3	G	T	6: 29,588,042 (GRCm39)	C125*	probably null	Het
Trappc8	A	G	18: 20,979,504 (GRCm39)		probably null	Het
Trpm6	C	T	19: 18,831,112 (GRCm39)	R1326*	probably null	Het
Vmn2r19	A	C	6: 123,293,054 (GRCm39)	E365D	possibly damaging	Het
Vps18	A	G	2: 119,119,543 (GRCm39)	Y8C	probably damaging	Het
Zfp111	T	C	7: 23,902,791 (GRCm39)		probably null	Het
Zfp618	A	T	4: 63,051,478 (GRCm39)	Q753L	probably benign	Het
Zkscan17	A	T	11: 59,394,401 (GRCm39)	C67S	probably damaging	Het

Other mutations in Zc3hav1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0070:Zc3hav1l	UTSW	6	38,272,125 (GRCm39)	missense	probably damaging	1.00
R0070:Zc3hav1l	UTSW	6	38,272,125 (GRCm39)	missense	probably damaging	1.00
R1833:Zc3hav1l	UTSW	6	38,274,881 (GRCm39)	splice site	probably benign
R3718:Zc3hav1l	UTSW	6	38,272,060 (GRCm39)	missense	probably damaging	1.00
R6034:Zc3hav1l	UTSW	6	38,272,215 (GRCm39)	missense	probably damaging	1.00
R6034:Zc3hav1l	UTSW	6	38,272,215 (GRCm39)	missense	probably damaging	1.00
R6101:Zc3hav1l	UTSW	6	38,270,012 (GRCm39)	missense	probably benign
R7315:Zc3hav1l	UTSW	6	38,272,082 (GRCm39)	missense	possibly damaging	0.94
R7352:Zc3hav1l	UTSW	6	38,275,916 (GRCm39)	missense	probably benign	0.03
R8021:Zc3hav1l	UTSW	6	38,274,882 (GRCm39)	splice site	probably benign
R8519:Zc3hav1l	UTSW	6	38,272,176 (GRCm39)	missense	probably damaging	1.00
R9691:Zc3hav1l	UTSW	6	38,276,112 (GRCm39)	missense	probably benign	0.00
R9787:Zc3hav1l	UTSW	6	38,272,101 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCAATGATACTAAGTGAGGG -3'
(R):5'- GTGGGCAAACTGGTTTTAGC -3'

Sequencing Primer
(F):5'- GAGAGAAAGACCGGCTAAAAACTGC -3'
(R):5'- CATGTTGCTTCCAACAACG -3'

Posted On

2017-08-16