Mutagenetix > Incidental Mutation

Incidental Mutation 'R4492:Zfp612'

330783

Institutional Source

Beutler Lab

Gene Symbol

Zfp612

Ensembl Gene

ENSMUSG00000044676

Gene Name

zinc finger protein 612

Synonyms

B230354B21Rik

MMRRC Submission

041581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4492 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110806378-110819373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110815929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 379 (Q379K)

Ref Sequence

ENSEMBL: ENSMUSP00000148717 (fasta)

Gene Model

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

AlphaFold

A0A1D5RMC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058804
AA Change: Q340K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: Q340K

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: Q379K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	G	10: 89,561,676 (GRCm39)	I157L	probably benign	Het
Amph	T	C	13: 19,333,928 (GRCm39)	V663A	possibly damaging	Het
Anapc16	A	G	10: 59,826,724 (GRCm39)	S50P	possibly damaging	Het
Ank3	T	A	10: 69,644,755 (GRCm39)	V60D	probably damaging	Het
Btbd9	A	G	17: 30,746,545 (GRCm39)	Y94H	probably damaging	Het
Chil3	A	G	3: 106,063,017 (GRCm39)	I191T	probably damaging	Het
Clpb	T	C	7: 101,436,929 (GRCm39)	L668P	probably damaging	Het
Cyp2d22	G	A	15: 82,258,571 (GRCm39)	H97Y	probably benign	Het
Dhrs7	A	T	12: 72,699,899 (GRCm39)	N244K	probably damaging	Het
Dusp4	C	T	8: 35,274,890 (GRCm39)	T3M	possibly damaging	Het
Edc4	GGATTTTAGCCA	G	8: 106,611,700 (GRCm39)		probably null	Het
Etl4	G	A	2: 20,811,676 (GRCm39)	S1621N	possibly damaging	Het
Fam174a	T	C	1: 95,241,701 (GRCm39)	S54P	probably benign	Het
Fdxacb1	T	C	9: 50,681,547 (GRCm39)	F7S	probably damaging	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,468 (GRCm39)	L268H	probably damaging	Het
Gpr17	A	T	18: 32,080,304 (GRCm39)	I253N	possibly damaging	Het
H2-T23	A	T	17: 36,343,058 (GRCm39)	N106K	probably damaging	Het
Hspa4	T	C	11: 53,171,296 (GRCm39)	R303G	probably damaging	Het
Irgm1	G	A	11: 48,756,955 (GRCm39)		silent	Het
Jph1	A	C	1: 17,067,770 (GRCm39)	I114S	probably damaging	Het
Kcna1	C	T	6: 126,619,238 (GRCm39)	D361N	possibly damaging	Het
Kcna4	G	A	2: 107,126,436 (GRCm39)	R390Q	probably damaging	Het
Lum	C	A	10: 97,404,300 (GRCm39)	P65H	probably damaging	Het
Mc4r	A	G	18: 66,992,711 (GRCm39)	L134P	probably benign	Het
Mroh8	A	T	2: 157,099,960 (GRCm39)	I248N	probably damaging	Het
Nos2	A	G	11: 78,840,921 (GRCm39)	T677A	probably benign	Het
Nup37	T	A	10: 88,010,791 (GRCm39)	F257I	possibly damaging	Het
Or13c3	T	C	4: 52,855,764 (GRCm39)	I250V	probably benign	Het
Or6k6	C	T	1: 173,944,770 (GRCm39)	V271I	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pdzd2	A	C	15: 12,419,567 (GRCm39)	M501R	possibly damaging	Het
Pitx1	T	C	13: 55,976,465 (GRCm39)	K65E	probably benign	Het
Pla1a	C	T	16: 38,229,972 (GRCm39)	A247T	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Prss8	A	G	7: 127,528,979 (GRCm39)	S26P	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rock2	T	A	12: 17,027,684 (GRCm39)	C1334S	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	A	G	12: 103,613,146 (GRCm39)	W385R	probably damaging	Het
Slc12a5	T	C	2: 164,821,263 (GRCm39)	M249T	probably benign	Het
Srsf9	T	A	5: 115,470,651 (GRCm39)	I117N	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc21a	T	C	9: 119,770,346 (GRCm39)	V139A	probably benign	Het
Zfp236	A	T	18: 82,648,125 (GRCm39)	V1012D	probably damaging	Het
Zfp930	C	T	8: 69,680,898 (GRCm39)	Q198*	probably null	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
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'- TTCTCAAGGCAGCCCTCAAG -3'
(R):5'- AGCTTCCCTTTGGCACTGAA -3'

Sequencing Primer
(F):5'- TAAAGCCAAGTTCGTCTGGC -3'
(R):5'- GCACTGAAAGTCTTTCCGCAG -3'

Posted On

2015-07-21