Mutagenetix > Incidental Mutation

Incidental Mutation 'R6101:Zc3hav1l'

485247

Institutional Source

Beutler Lab

Gene Symbol

Zc3hav1l

Ensembl Gene

ENSMUSG00000047749

Gene Name

zinc finger CCCH-type, antiviral 1-like

Synonyms

B130055L09Rik, E430016P22Rik

MMRRC Submission

044251-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6101 (G1)

Quality Score

225.009

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: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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
Arhgap11a	G	A	2: 113,665,219 (GRCm39)	R460*	probably null	Het
Chl1	A	T	6: 103,669,993 (GRCm39)	D477V	probably damaging	Het
Clstn3	A	T	6: 124,438,629 (GRCm39)	L45Q	probably damaging	Het
Cnot7	C	T	8: 40,963,078 (GRCm39)	R32Q	probably benign	Het
Csrnp1	T	C	9: 119,802,551 (GRCm39)	D220G	probably damaging	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Glul	T	A	1: 153,782,177 (GRCm39)	Y137*	probably null	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Igha	T	A	12: 113,220,017 (GRCm39)		probably benign	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
Lrrk2	T	C	15: 91,607,338 (GRCm39)	I567T	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
Mical3	A	T	6: 121,010,671 (GRCm39)	V437D	probably damaging	Het
Mief1	T	C	15: 80,133,941 (GRCm39)	Y333H	probably benign	Het
Or12j4	T	A	7: 140,046,432 (GRCm39)	V106D	probably benign	Het
Or4f7	A	G	2: 111,644,598 (GRCm39)	F158L	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
Pikfyve	A	G	1: 65,303,504 (GRCm39)		probably null	Het
Pinlyp	C	T	7: 24,245,405 (GRCm39)	R5K	possibly damaging	Het
Pkd1l3	A	G	8: 110,367,478 (GRCm39)	D1225G	probably damaging	Het
Pnma8b	T	A	7: 16,680,493 (GRCm39)	S492R	probably benign	Het
Postn	A	G	3: 54,279,641 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,416,127 (GRCm39)	Y1724H	possibly damaging	Het
Rpn2	T	A	2: 157,152,108 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,351,716 (GRCm39)	V755A	probably damaging	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
Tdrd12	A	T	7: 35,180,558 (GRCm39)	Y818*	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
Trim58	A	G	11: 58,542,441 (GRCm39)	N467S	probably benign	Het
Trpm6	C	T	19: 18,831,112 (GRCm39)	R1326*	probably null	Het
Zfp618	A	T	4: 63,051,478 (GRCm39)	Q753L	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	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
R6105: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'- TCCTGGCGATCAGTTAGTTG -3'
(R):5'- CAGAAACATCTCCTCAAGTTGC -3'

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

Posted On

2017-08-16