Mutagenetix > Incidental Mutation

Incidental Mutation 'R6601:Zfp612'

525269

Institutional Source

Beutler Lab

Gene Symbol

Zfp612

Ensembl Gene

ENSMUSG00000044676

Gene Name

zinc finger protein 612

Synonyms

B230354B21Rik

MMRRC Submission

044725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110806378-110819373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110816181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 424 (Q424K)

Ref Sequence

ENSEMBL: ENSMUSP00000062474 (fasta)

Gene Model

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

AlphaFold

A0A1D5RMC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058804
AA Change: Q424K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: Q424K

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

possibly damaging
Transcript: ENSMUST00000212754
AA Change: Q463K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,102,665 (GRCm39)	L527R	probably damaging	Het
Ccdc172	T	A	19: 58,525,723 (GRCm39)	C194S	possibly damaging	Het
Ccnb1ip1	G	T	14: 51,031,121 (GRCm39)	T64K	possibly damaging	Het
Ces1b	T	C	8: 93,806,109 (GRCm39)	E44G	probably benign	Het
Coro2a	A	T	4: 46,543,421 (GRCm39)	Y317*	probably null	Het
Csnk1a1	T	C	18: 61,711,829 (GRCm39)	F281S	probably damaging	Het
Ddx28	A	T	8: 106,737,248 (GRCm39)		probably null	Het
Dtnbp1	A	G	13: 45,084,721 (GRCm39)		probably null	Het
Eif2s1	T	C	12: 78,930,126 (GRCm39)	I258T	possibly damaging	Het
Elp3	T	C	14: 65,784,488 (GRCm39)	*554W	probably null	Het
Golga1	T	C	2: 38,910,118 (GRCm39)	M610V	probably damaging	Het
Hc	T	A	2: 34,935,906 (GRCm39)	K156N	probably benign	Het
Hcls1	G	A	16: 36,782,748 (GRCm39)	G428D	probably benign	Het
Il16	T	C	7: 83,371,677 (GRCm39)	D43G	probably damaging	Het
Klhl3	C	A	13: 58,242,930 (GRCm39)	K91N	probably damaging	Het
L3mbtl1	C	T	2: 162,790,095 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,810,544 (GRCm39)	F805L	possibly damaging	Het
Lipg	T	C	18: 75,081,275 (GRCm39)	M269V	probably benign	Het
Ly75	G	A	2: 60,148,720 (GRCm39)	T1203I	probably benign	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Muc16	A	T	9: 18,548,866 (GRCm39)	L5809Q	probably benign	Het
Naip6	G	A	13: 100,420,266 (GRCm39)	R1335C	probably benign	Het
Ndufaf3	T	C	9: 108,443,416 (GRCm39)	H128R	probably benign	Het
Nphp4	A	T	4: 152,587,464 (GRCm39)		probably null	Het
Or8u8	T	A	2: 86,012,309 (GRCm39)	I49F	probably damaging	Het
Otop3	T	C	11: 115,230,673 (GRCm39)	V148A	probably damaging	Het
Ovgp1	T	C	3: 105,893,747 (GRCm39)		probably benign	Het
Pcsk5	T	G	19: 17,488,744 (GRCm39)	R1025S	probably benign	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Polr1d	T	A	5: 147,015,359 (GRCm39)	L14*	probably null	Het
Rab26	T	A	17: 24,748,595 (GRCm39)	K270*	probably null	Het
Rasgef1c	T	A	11: 49,862,246 (GRCm39)	N378K	probably damaging	Het
Rpl7a	T	C	2: 26,801,536 (GRCm39)	V76A	probably benign	Het
Samd9l	T	A	6: 3,377,229 (GRCm39)	I11F	possibly damaging	Het
Smarca2	C	A	19: 26,631,777 (GRCm39)	Q531K	probably benign	Het
Styxl1	C	G	5: 135,784,350 (GRCm39)	G211A	probably benign	Het
Taar9	T	C	10: 23,984,945 (GRCm39)	Y163C	probably damaging	Het
Tmem198	T	A	1: 75,457,017 (GRCm39)	F48I	possibly damaging	Het
Ttn	T	A	2: 76,595,073 (GRCm39)	N12032I	probably damaging	Het
Ubr7	T	A	12: 102,727,723 (GRCm39)	C82S	probably damaging	Het
Wwtr1	T	C	3: 57,483,159 (GRCm39)	E48G	possibly damaging	Het
Zfp108	T	C	7: 23,960,819 (GRCm39)	V470A	probably damaging	Het
Zscan4-ps1	T	C	7: 10,802,761 (GRCm39)	T13A	probably benign	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
R4281:Zfp612	UTSW	8	110,816,691 (GRCm39)	missense	probably damaging	0.98
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
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'- GTGACTGTGGGAAAGCCTTCAA -3'
(R):5'- TCCCACACTCGCTACATTGAT -3'

Sequencing Primer
(F):5'- CTGTGGGAAAGCCTTCAATGTTAACG -3'
(R):5'- ACTCGCTACATTGATACGGC -3'

Posted On

2018-06-22