Mutagenetix > Incidental Mutation

Incidental Mutation 'R9394:Zfp612'

710743

Institutional Source

Beutler Lab

Gene Symbol

Zfp612

Ensembl Gene

ENSMUSG00000044676

Gene Name

zinc finger protein 612

Synonyms

B230354B21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9394 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110806378-110819373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110810993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 57 (P57T)

Ref Sequence

ENSEMBL: ENSMUSP00000148717 (fasta)

Gene Model

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

AlphaFold

A0A1D5RMC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000058804
AA Change: P18T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: P18T

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: P57T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	G	4: 86,135,225 (GRCm39)	D78G		Het
Adgrv1	A	G	13: 81,624,767 (GRCm39)	V3734A	possibly damaging	Het
Alpk1	T	A	3: 127,466,187 (GRCm39)	E1106D	probably damaging	Het
Apc2	A	G	10: 80,145,006 (GRCm39)	Y639C	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arfgef2	G	A	2: 166,676,469 (GRCm39)	V119I	probably benign	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Cfap52	A	G	11: 67,815,921 (GRCm39)	*621R	probably null	Het
Dis3l	T	C	9: 64,225,017 (GRCm39)	I427V	probably benign	Het
Dscaml1	G	A	9: 45,661,354 (GRCm39)	V1751I	possibly damaging	Het
Eif3c	A	T	7: 126,156,550 (GRCm39)	F432L	probably benign	Het
Iars1	A	G	13: 49,883,536 (GRCm39)	N1110S	probably benign	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Igfbpl1	A	T	4: 45,826,792 (GRCm39)	M1K	probably null	Het
Igkv3-1	T	A	6: 70,680,953 (GRCm39)	Y51N	probably benign	Het
Kcnq2	A	T	2: 180,724,217 (GRCm39)	I600K	probably benign	Het
Madd	G	A	2: 91,000,199 (GRCm39)	T569M	probably benign	Het
Mapk7	A	T	11: 61,381,858 (GRCm39)	H351Q	probably damaging	Het
Met	A	C	6: 17,513,395 (GRCm39)	Y415S	probably damaging	Het
Mmd2	A	T	5: 142,555,239 (GRCm39)	V151D	probably damaging	Het
Nacad	T	C	11: 6,549,390 (GRCm39)	D1267G	probably damaging	Het
Or10g1	A	G	14: 52,647,570 (GRCm39)	V253A	probably damaging	Het
Or2l13	A	C	16: 19,306,421 (GRCm39)	T278P	possibly damaging	Het
Or2m13	A	G	16: 19,226,019 (GRCm39)	V249A	probably benign	Het
Or5w12	T	C	2: 87,502,094 (GRCm39)	I206V	probably benign	Het
Osbpl8	C	T	10: 111,127,375 (GRCm39)	R820*	probably null	Het
Oxsr1	C	A	9: 119,151,134 (GRCm39)	E3*	probably null	Het
Plekhg3	A	G	12: 76,623,862 (GRCm39)	D1035G	probably damaging	Het
Prune2	C	T	19: 16,981,053 (GRCm39)	T70I	probably damaging	Het
Ranbp2	T	C	10: 58,291,698 (GRCm39)	L235S	probably damaging	Het
Rasal1	A	C	5: 120,816,746 (GRCm39)	S761R	probably benign	Het
Rigi	T	C	4: 40,213,831 (GRCm39)	N609S	probably damaging	Het
Rims1	T	C	1: 22,511,856 (GRCm39)	S566G	probably damaging	Het
Rnf123	T	C	9: 107,942,905 (GRCm39)	H611R	probably damaging	Het
Rpl35rt	T	C	1: 156,193,793 (GRCm39)	V49A	probably benign	Het
Scn5a	T	A	9: 119,324,682 (GRCm39)	N1382I	probably damaging	Het
Sgcb	T	C	5: 73,801,653 (GRCm39)	I71V	probably benign	Het
Slc6a20a	C	A	9: 123,507,805 (GRCm39)	V23L	probably damaging	Het
Slc7a1	A	G	5: 148,270,712 (GRCm39)	W585R	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tom1l2	T	C	11: 60,132,715 (GRCm39)	T403A	probably benign	Het
Trpm1	G	T	7: 63,918,480 (GRCm39)	A1491S	probably benign	Het
Ttn	A	C	2: 76,707,058 (GRCm39)	D9044E	unknown	Het
Ube3a	A	T	7: 58,921,960 (GRCm39)	K111*	probably null	Het
Wee2	A	G	6: 40,433,878 (GRCm39)	H264R	probably damaging	Het
Zdhhc23	T	A	16: 43,791,826 (GRCm39)	I316F	probably damaging	Het
Zfc3h1	A	G	10: 115,254,600 (GRCm39)	E1398G	probably 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
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
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
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'- CCAGCTTTCTCTGCACATGG -3'
(R):5'- CCACTTTTAGAGGCAATGCTC -3'

Sequencing Primer
(F):5'- TCTGCACATGGTCCCTGG -3'
(R):5'- CCAAACCACGAATTCTACATTCTTG -3'

Posted On

2022-04-18