Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Zc3hav1l'

17085

Institutional Source

Beutler Lab

Gene Symbol

Zc3hav1l

Ensembl Gene

ENSMUSG00000047749

Gene Name

zinc finger CCCH-type, antiviral 1-like

Synonyms

B130055L09Rik, E430016P22Rik

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38264331-38276194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38272125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 215 (S215T)

Ref Sequence

ENSEMBL: ENSMUSP00000062475 (fasta)

Gene Model

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

AlphaFold

Q8BFR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000058524
AA Change: S215T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062475
Gene: ENSMUSG00000047749
AA Change: S215T

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

Meta Mutation Damage Score

0.2001

Coding Region Coverage

1x: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm2027	T	A	12: 44,269,145 (GRCm39)		probably benign	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Hykk	T	A	9: 54,829,632 (GRCm39)		probably benign	Het
Kansl1l	T	C	1: 66,840,262 (GRCm39)	D346G	probably damaging	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Nav2	A	G	7: 49,220,462 (GRCm39)	E1669G	probably damaging	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,914,260 (GRCm39)	D309A	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Taok1	T	A	11: 77,444,543 (GRCm39)	M511L	probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem147	T	C	7: 30,427,526 (GRCm39)	Y97C	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Zscan20	C	T	4: 128,479,675 (GRCm39)	V939I	possibly 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
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
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

Posted On

2013-01-20