Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Zfp607b'

436281

Institutional Source

Beutler Lab

Gene Symbol

Zfp607b

Ensembl Gene

ENSMUSG00000057093

Gene Name

zinc finger protein 607B

Synonyms

C030039L03Rik

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27388765-27405909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27402032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 163 (T163S)

Ref Sequence

ENSEMBL: ENSMUSP00000112494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076421] [ENSMUST00000120004]

AlphaFold

G3X9H3

Predicted Effect

probably benign
Transcript: ENSMUST00000076421
AA Change: T163S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: T163S

Domain	Start	End	E-Value	Type
KRAB	14	75	1.29e-35	SMART
ZnF_C2H2	172	194	1.08e-1	SMART
ZnF_C2H2	200	222	4.24e-4	SMART
ZnF_C2H2	228	250	2.2e-2	SMART
ZnF_C2H2	256	278	1.69e-3	SMART
ZnF_C2H2	284	306	4.94e-5	SMART
ZnF_C2H2	312	334	2.36e-2	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	1.67e-2	SMART
ZnF_C2H2	395	417	1.38e-3	SMART
ZnF_C2H2	423	445	1.06e-4	SMART
ZnF_C2H2	451	473	1.67e-2	SMART
ZnF_C2H2	479	501	6.67e-2	SMART
ZnF_C2H2	507	529	3.52e-1	SMART
ZnF_C2H2	535	557	3.49e-5	SMART
ZnF_C2H2	563	585	1.56e-2	SMART
ZnF_C2H2	591	613	3.89e-3	SMART
ZnF_C2H2	619	641	9.73e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120004
AA Change: T163S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: T163S

Domain	Start	End	E-Value	Type
KRAB	14	75	1.29e-35	SMART
ZnF_C2H2	172	194	1.08e-1	SMART
ZnF_C2H2	200	222	4.24e-4	SMART
ZnF_C2H2	228	250	2.2e-2	SMART
ZnF_C2H2	256	278	1.69e-3	SMART
ZnF_C2H2	284	306	4.94e-5	SMART
ZnF_C2H2	312	334	2.36e-2	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	1.67e-2	SMART
ZnF_C2H2	395	417	1.38e-3	SMART
ZnF_C2H2	423	445	1.06e-4	SMART
ZnF_C2H2	451	473	1.67e-2	SMART
ZnF_C2H2	479	501	6.67e-2	SMART
ZnF_C2H2	507	529	3.52e-1	SMART
ZnF_C2H2	535	557	3.49e-5	SMART
ZnF_C2H2	563	585	1.56e-2	SMART
ZnF_C2H2	591	613	3.89e-3	SMART
ZnF_C2H2	619	641	9.73e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124397

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	Het

Other mutations in Zfp607b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Zfp607b	APN	7	27,398,140 (GRCm39)	missense	possibly damaging	0.75
IGL02114:Zfp607b	APN	7	27,403,150 (GRCm39)	missense	probably benign	0.19
IGL03171:Zfp607b	APN	7	27,393,020 (GRCm39)	missense	possibly damaging	0.70
IGL03329:Zfp607b	APN	7	27,403,295 (GRCm39)	missense	probably damaging	1.00
R0988:Zfp607b	UTSW	7	27,402,401 (GRCm39)	missense	probably benign	0.34
R1518:Zfp607b	UTSW	7	27,398,087 (GRCm39)	missense	possibly damaging	0.95
R1672:Zfp607b	UTSW	7	27,391,948 (GRCm39)	missense	possibly damaging	0.86
R1733:Zfp607b	UTSW	7	27,391,949 (GRCm39)	missense	possibly damaging	0.66
R1992:Zfp607b	UTSW	7	27,401,949 (GRCm39)	missense	possibly damaging	0.87
R2849:Zfp607b	UTSW	7	27,401,819 (GRCm39)	missense	probably benign	0.00
R3879:Zfp607b	UTSW	7	27,403,476 (GRCm39)	missense	possibly damaging	0.91
R4117:Zfp607b	UTSW	7	27,398,107 (GRCm39)	missense	probably damaging	0.97
R4439:Zfp607b	UTSW	7	27,402,149 (GRCm39)	missense	probably damaging	1.00
R4610:Zfp607b	UTSW	7	27,403,120 (GRCm39)	missense	probably damaging	1.00
R4755:Zfp607b	UTSW	7	27,402,930 (GRCm39)	missense	probably damaging	1.00
R4909:Zfp607b	UTSW	7	27,403,221 (GRCm39)	missense	probably benign
R5095:Zfp607b	UTSW	7	27,393,061 (GRCm39)	intron	probably benign
R5301:Zfp607b	UTSW	7	27,403,172 (GRCm39)	missense	probably benign
R5422:Zfp607b	UTSW	7	27,401,813 (GRCm39)	missense	probably benign	0.00
R5538:Zfp607b	UTSW	7	27,402,294 (GRCm39)	missense	probably damaging	1.00
R5644:Zfp607b	UTSW	7	27,403,194 (GRCm39)	missense	probably damaging	1.00
R5649:Zfp607b	UTSW	7	27,403,406 (GRCm39)	missense	probably damaging	1.00
R5692:Zfp607b	UTSW	7	27,402,889 (GRCm39)	missense	probably benign	0.17
R5945:Zfp607b	UTSW	7	27,401,841 (GRCm39)	missense	probably benign	0.06
R6695:Zfp607b	UTSW	7	27,403,464 (GRCm39)	missense	probably benign	0.04
R7402:Zfp607b	UTSW	7	27,392,919 (GRCm39)	missense	probably damaging	1.00
R7515:Zfp607b	UTSW	7	27,402,921 (GRCm39)	missense	probably benign	0.03
R8402:Zfp607b	UTSW	7	27,402,127 (GRCm39)	missense	probably damaging	1.00
R8954:Zfp607b	UTSW	7	27,403,387 (GRCm39)	missense	probably benign	0.00
R9494:Zfp607b	UTSW	7	27,403,092 (GRCm39)	missense	probably damaging	1.00
R9554:Zfp607b	UTSW	7	27,402,464 (GRCm39)	missense	probably damaging	0.99
R9727:Zfp607b	UTSW	7	27,403,125 (GRCm39)	missense	probably benign
Z1177:Zfp607b	UTSW	7	27,401,819 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCCGGAGAATCATATGTCTGATG -3'
(R):5'- GGAGACACGGCTGAAGAACTTC -3'

Sequencing Primer
(F):5'- CTGATGTAAATTTACACAAACAGAGC -3'
(R):5'- ACCACTGTGAGACTTCTGATG -3'

Posted On

2016-10-24