Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Zfp612'

549686

Institutional Source

Beutler Lab

Gene Symbol

Zfp612

Ensembl Gene

ENSMUSG00000044676

Gene Name

zinc finger protein 612

Synonyms

B230354B21Rik

MMRRC Submission

045177-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110806378-110819373 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110815768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 325 (I325T)

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: I286T

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

SMART Domains

Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: I286T

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: I325T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,607,015 (GRCm39)	M249K	possibly damaging	Het
Arhgef38	T	A	3: 132,838,197 (GRCm39)	Q613L	unknown	Het
Arpp21	A	G	9: 112,012,612 (GRCm39)	V70A	probably benign	Het
AW551984	T	C	9: 39,508,943 (GRCm39)	N327S	probably damaging	Het
Bnc1	T	C	7: 81,623,058 (GRCm39)	K723R	probably damaging	Het
Btbd7	A	G	12: 102,754,594 (GRCm39)	L724P	probably damaging	Het
Btnl10	G	T	11: 58,809,963 (GRCm39)	V35F	probably damaging	Het
Cd22	T	A	7: 30,567,473 (GRCm39)	T704S	probably damaging	Het
Cd4	T	G	6: 124,847,535 (GRCm39)	S210R	probably benign	Het
Cped1	A	G	6: 22,123,579 (GRCm39)	Q444R	probably benign	Het
Dusp26	A	G	8: 31,581,747 (GRCm39)		probably benign	Het
Dync1i1	C	T	6: 5,969,429 (GRCm39)	A418V	probably damaging	Het
Fibp	A	G	19: 5,513,659 (GRCm39)	D232G	probably damaging	Het
Frem2	T	A	3: 53,444,914 (GRCm39)	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr39	T	A	1: 125,605,155 (GRCm39)	W28R	probably damaging	Het
Greb1	A	G	12: 16,773,315 (GRCm39)	V253A	probably benign	Het
Hexim1	T	G	11: 103,007,992 (GRCm39)	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,779,945 (GRCm39)	R49L	possibly damaging	Het
Irag2	A	T	6: 145,115,509 (GRCm39)	N349I	probably damaging	Het
Itch	A	T	2: 155,052,364 (GRCm39)	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,359,757 (GRCm39)	E129G	probably damaging	Het
Klk1b24	G	A	7: 43,841,225 (GRCm39)	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,166 (GRCm39)	I420V	probably benign	Het
Ltk	A	C	2: 119,582,555 (GRCm39)	C776G	probably damaging	Het
Mast4	A	C	13: 102,874,223 (GRCm39)	L1715R	probably damaging	Het
Med28	T	C	5: 45,680,878 (GRCm39)		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,138 (GRCm39)		probably benign	Het
Nckap1l	C	A	15: 103,390,551 (GRCm39)	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,638,663 (GRCm39)	K266E	possibly damaging	Het
Ntrk3	T	A	7: 77,900,587 (GRCm39)	D584V	probably damaging	Het
Or1o1	T	C	17: 37,717,063 (GRCm39)	V208A	probably benign	Het
Or2h15	T	A	17: 38,441,601 (GRCm39)	T161S	probably benign	Het
Or4c126	A	G	2: 89,824,201 (GRCm39)	I155V	probably benign	Het
Or4n4b	G	A	14: 50,536,736 (GRCm39)	T10I	possibly damaging	Het
Or5h25	T	C	16: 58,930,400 (GRCm39)	D191G	probably damaging	Het
Picalm	T	A	7: 89,825,976 (GRCm39)	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prps1l3	A	T	12: 57,286,034 (GRCm39)	I275L	probably benign	Het
Psg26	G	A	7: 18,213,934 (GRCm39)	R243*	probably null	Het
Ranbp2	A	G	10: 58,315,052 (GRCm39)	H1924R	probably damaging	Het
Rasef	T	C	4: 73,709,221 (GRCm39)	D4G	probably benign	Het
Rttn	T	C	18: 89,108,722 (GRCm39)	L1642P	probably damaging	Het
Shroom3	T	C	5: 93,112,384 (GRCm39)	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,013,037 (GRCm39)	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,064,839 (GRCm39)	N231S	probably benign	Het
Sox18	T	C	2: 181,312,165 (GRCm39)	Q322R	possibly damaging	Het
Sting1	T	C	18: 35,867,703 (GRCm39)	H331R	probably damaging	Het
Syde1	G	T	10: 78,422,903 (GRCm39)	P490T	probably benign	Het
Syne2	A	G	12: 75,990,662 (GRCm39)	I1881M	probably damaging	Het
Taf1c	T	C	8: 120,327,407 (GRCm39)	D387G	probably damaging	Het
Tenm4	T	A	7: 96,544,556 (GRCm39)	Y2228N	probably damaging	Het
Tubgcp5	C	T	7: 55,450,443 (GRCm39)	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,381,369 (GRCm39)	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,812,166 (GRCm39)	C152F	probably damaging	Het
Zfp52	T	A	17: 21,780,392 (GRCm39)	M80K	possibly damaging	Het
Zmiz1	T	G	14: 25,652,372 (GRCm39)	F597V	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
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'- TGTGTATACTCTGATGCTGCC -3'

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

Posted On

2019-05-15