Mutagenetix > Incidental Mutation

Incidental Mutation 'R4281:Zfp612'

322904

Institutional Source

Beutler Lab

Gene Symbol

Zfp612

Ensembl Gene

ENSMUSG00000044676

Gene Name

zinc finger protein 612

Synonyms

B230354B21Rik

MMRRC Submission

041649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110806378-110819373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110816691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 594 (I594V)

Ref Sequence

ENSEMBL: ENSMUSP00000062474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058804] [ENSMUST00000165700] [ENSMUST00000212754]

AlphaFold

A0A1D5RMC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058804
AA Change: I594V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: I594V

Domain	Start	End	E-Value	Type
KRAB	11	71	2e-32	SMART
low complexity region	135	146	N/A	INTRINSIC
ZnF_C2H2	225	247	1.45e-2	SMART
ZnF_C2H2	253	275	2.67e-1	SMART
ZnF_C2H2	281	303	1.4e-4	SMART
ZnF_C2H2	309	331	2.91e-2	SMART
ZnF_C2H2	337	359	3.16e-3	SMART
ZnF_C2H2	365	387	4.17e-3	SMART
ZnF_C2H2	393	415	1.82e-3	SMART
ZnF_C2H2	421	443	3.69e-4	SMART
ZnF_C2H2	449	471	3.69e-4	SMART
ZnF_C2H2	477	499	1.58e-3	SMART
ZnF_C2H2	505	527	4.87e-4	SMART
ZnF_C2H2	533	555	1.38e-3	SMART
ZnF_C2H2	561	583	5.06e-2	SMART
ZnF_C2H2	589	611	5.9e-3	SMART
ZnF_C2H2	617	639	9.44e-2	SMART
ZnF_C2H2	645	667	1.03e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165700

Predicted Effect

probably damaging
Transcript: ENSMUST00000212754
AA Change: I633V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.0763

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

92% (44/48)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
B9d2	A	G	7: 25,380,851 (GRCm39)	T14A	possibly damaging	Het
Cavin3	A	C	7: 105,130,981 (GRCm39)		probably null	Het
Defa27	A	G	8: 21,805,632 (GRCm39)	N24S	probably benign	Het
Defb40	A	G	8: 19,028,093 (GRCm39)	S14P	probably damaging	Het
Dnaaf11	A	T	15: 66,252,378 (GRCm39)	H429Q	probably benign	Het
Dnmt3a	G	A	12: 3,951,665 (GRCm39)	G681R	probably damaging	Het
Evc2	T	C	5: 37,495,938 (GRCm39)	V16A	probably benign	Het
Fam210b	T	C	2: 172,193,468 (GRCm39)	Y94H	probably damaging	Het
Gimap8	A	C	6: 48,635,754 (GRCm39)	R506S	probably benign	Het
Gmip	T	A	8: 70,266,251 (GRCm39)		probably benign	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Gsn	A	G	2: 35,188,883 (GRCm39)	Y434C	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,065 (GRCm39)	N383S	possibly damaging	Het
Hepacam2	G	A	6: 3,475,938 (GRCm39)	T329I	probably damaging	Het
Iqgap3	T	C	3: 88,006,167 (GRCm39)	V526A	probably benign	Het
Magea14	T	C	X: 51,057,867 (GRCm39)	Y273C	probably damaging	Het
Mark4	T	C	7: 19,167,371 (GRCm39)	K456R	probably benign	Het
Nox4	A	G	7: 86,946,732 (GRCm39)	I143V	possibly damaging	Het
Or11h7	T	C	14: 50,891,029 (GRCm39)	C112R	probably benign	Het
Or12j3	A	G	7: 139,953,385 (GRCm39)	I46T	probably benign	Het
Pcdh18	A	G	3: 49,710,982 (GRCm39)	L111P	possibly damaging	Het
Pnma5	T	C	X: 72,079,036 (GRCm39)	M549V	probably benign	Het
Pnpla6	T	C	8: 3,571,513 (GRCm39)	L148P	probably damaging	Het
Ppp4r3c1	A	T	X: 88,976,105 (GRCm39)	W31R	probably damaging	Het
Prkdc	A	G	16: 15,623,963 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,712,051 (GRCm39)	E275G	probably damaging	Het
Rasa3	A	G	8: 13,638,946 (GRCm39)	V287A	probably benign	Het
Rimbp2	C	T	5: 128,865,404 (GRCm39)	R641Q	possibly damaging	Het
Slco6b1	A	G	1: 96,925,115 (GRCm39)		noncoding transcript	Het
Sned1	A	T	1: 93,213,577 (GRCm39)	R426*	probably null	Het
Tmem132a	C	G	19: 10,839,090 (GRCm39)	E451Q	possibly damaging	Het
Tmem229b-ps	A	G	10: 53,351,474 (GRCm39)		noncoding transcript	Het
Trim33	T	A	3: 103,236,402 (GRCm39)	V504D	probably damaging	Het
Usp47	A	T	7: 111,709,200 (GRCm39)	E1315D	probably benign	Het
Zbtb24	T	C	10: 41,340,916 (GRCm39)	S649P	probably benign	Het
Zfp28	A	T	7: 6,396,700 (GRCm39)	Q378H	probably benign	Het
Zfp692	T	C	11: 58,205,091 (GRCm39)	F447L	probably damaging	Het
Zranb3	A	C	1: 127,891,614 (GRCm39)	S787R	possibly damaging	Het

Other mutations in Zfp612

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8562:Zfp612	UTSW	8	110,816,670 (GRCm39)	missense	probably damaging	1.00
R1920:Zfp612	UTSW	8	110,815,095 (GRCm39)	missense	probably benign	0.03
R2994:Zfp612	UTSW	8	110,816,049 (GRCm39)	missense	probably damaging	1.00
R4378:Zfp612	UTSW	8	110,815,683 (GRCm39)	missense	possibly damaging	0.92
R4492:Zfp612	UTSW	8	110,815,929 (GRCm39)	missense	probably damaging	0.99
R4748:Zfp612	UTSW	8	110,815,304 (GRCm39)	missense	probably benign	0.37
R4890:Zfp612	UTSW	8	110,816,576 (GRCm39)	nonsense	probably null
R5200:Zfp612	UTSW	8	110,816,532 (GRCm39)	nonsense	probably null
R5443:Zfp612	UTSW	8	110,816,227 (GRCm39)	missense	possibly damaging	0.85
R5864:Zfp612	UTSW	8	110,816,358 (GRCm39)	missense	probably damaging	1.00
R6177:Zfp612	UTSW	8	110,816,606 (GRCm39)	missense	probably damaging	1.00
R6435:Zfp612	UTSW	8	110,815,952 (GRCm39)	missense	probably damaging	0.99
R6601:Zfp612	UTSW	8	110,816,181 (GRCm39)	missense	possibly damaging	0.92
R7082:Zfp612	UTSW	8	110,816,337 (GRCm39)	missense	probably damaging	1.00
R7083:Zfp612	UTSW	8	110,815,768 (GRCm39)	missense	probably damaging	1.00
R8837:Zfp612	UTSW	8	110,815,603 (GRCm39)	missense	probably damaging	1.00
R9323:Zfp612	UTSW	8	110,815,372 (GRCm39)	missense	probably benign
R9394:Zfp612	UTSW	8	110,810,993 (GRCm39)	missense	probably damaging	1.00
RF007:Zfp612	UTSW	8	110,816,174 (GRCm39)	nonsense	probably null
RF008:Zfp612	UTSW	8	110,816,193 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp612	UTSW	8	110,815,495 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGTGCACCAGAGGATCC -3'
(R):5'- ATTGATGAGCCACAATCCGTTTC -3'

Sequencing Primer
(F):5'- TGCACCAGAGGATCCACACTG -3'
(R):5'- GAGCCACAATCCGTTTCTTATTAAAC -3'

Posted On

2015-06-20