Mutagenetix > Incidental Mutation

Incidental Mutation 'R7575:Zbtb14'

586382

Institutional Source

Beutler Lab

Gene Symbol

Zbtb14

Ensembl Gene

ENSMUSG00000049672

Gene Name

zinc finger and BTB domain containing 14

Synonyms

Zfp161, b2b1982Clo, ZF5

MMRRC Submission

045632-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R7575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69690170-69697747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69694442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 47 (F47L)

Ref Sequence

ENSEMBL: ENSMUSP00000054897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062369] [ENSMUST00000112674] [ENSMUST00000112676]

AlphaFold

Q08376

Predicted Effect

probably damaging
Transcript: ENSMUST00000062369
AA Change: F47L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: F47L

Domain	Start	End	E-Value	Type
BTB	36	132	8.8e-26	SMART
low complexity region	154	171	N/A	INTRINSIC
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	3.95e-4	SMART
ZnF_C2H2	333	355	9.88e-5	SMART
ZnF_C2H2	361	383	2.2e-2	SMART
ZnF_C2H2	389	412	2.02e-1	SMART
low complexity region	428	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112674
AA Change: F47L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: F47L

Domain	Start	End	E-Value	Type
BTB	36	132	8.8e-26	SMART
low complexity region	154	171	N/A	INTRINSIC
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	3.95e-4	SMART
ZnF_C2H2	333	355	9.88e-5	SMART
ZnF_C2H2	361	383	2.2e-2	SMART
ZnF_C2H2	389	412	2.02e-1	SMART
low complexity region	428	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112676
AA Change: F47L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: F47L

Domain	Start	End	E-Value	Type
BTB	36	132	8.8e-26	SMART
low complexity region	154	171	N/A	INTRINSIC
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	3.95e-4	SMART
ZnF_C2H2	333	355	9.88e-5	SMART
ZnF_C2H2	361	383	2.2e-2	SMART
ZnF_C2H2	389	412	2.02e-1	SMART
low complexity region	428	444	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation show exencephaly, cardiac defects including valve abnormalities, double outlet right ventricle, perimembranous ventricular septal defect, and atrioventricular septal defect, and renal anomalies such as duplex kidney, hydronephrosis, and kidney cysts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,384,589 (GRCm39)	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,088,192 (GRCm39)	D439G	probably damaging	Het
Adam18	T	C	8: 25,115,873 (GRCm39)	N607S	possibly damaging	Het
Adamtsl3	A	T	7: 82,223,756 (GRCm39)	N1179I	possibly damaging	Het
Adarb1	A	G	10: 77,139,129 (GRCm39)	F552S	probably damaging	Het
Ago1	T	C	4: 126,347,701 (GRCm39)	E394G	probably benign	Het
Alb	G	A	5: 90,613,788 (GRCm39)	C224Y	probably damaging	Het
Alms1	T	A	6: 85,599,141 (GRCm39)	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,501,635 (GRCm39)	V643G	probably damaging	Het
Asah2	T	C	19: 31,994,103 (GRCm39)	Q414R	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Bbc3	G	A	7: 16,046,292 (GRCm39)	R76H	possibly damaging	Het
Bub1b	T	A	2: 118,471,639 (GRCm39)	S1000T	possibly damaging	Het
Bud23	A	T	5: 135,089,982 (GRCm39)	Y70*	probably null	Het
C1d	A	G	11: 17,212,694 (GRCm39)	E13G	probably damaging	Het
Camk1	T	A	6: 113,315,325 (GRCm39)	I158F	probably damaging	Het
Ccr2	A	C	9: 123,905,843 (GRCm39)	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,683 (GRCm39)	E348*	probably null	Het
Col6a3	A	G	1: 90,738,321 (GRCm39)	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,711,162 (GRCm39)	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,358,785 (GRCm39)	I378T	possibly damaging	Het
Cys1	T	A	12: 24,718,647 (GRCm39)	K69*	probably null	Het
Dip2c	A	G	13: 9,678,048 (GRCm39)	K1165E	probably damaging	Het
Drd3	A	T	16: 43,637,496 (GRCm39)	I232F	probably benign	Het
Dusp7	T	C	9: 106,250,876 (GRCm39)	C334R	probably damaging	Het
Eppk1	A	G	15: 75,995,442 (GRCm39)	S480P	not run	Het
Erc1	G	T	6: 119,801,721 (GRCm39)	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,558,155 (GRCm39)	P330L	unknown	Het
Fasn	G	T	11: 120,703,513 (GRCm39)	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,691,173 (GRCm39)	T130S	probably benign	Het
Fzd4	A	G	7: 89,056,918 (GRCm39)	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdpd4	A	T	7: 97,647,448 (GRCm39)	H365L	probably benign	Het
Gfy	A	G	7: 44,827,524 (GRCm39)	S191P	probably benign	Het
Ghr	A	T	15: 3,349,994 (GRCm39)	S395T	probably damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Htt	A	G	5: 35,062,987 (GRCm39)	D2873G	probably damaging	Het
Idua	A	T	5: 108,829,565 (GRCm39)	D476V	probably damaging	Het
Inppl1	G	A	7: 101,477,689 (GRCm39)	R683W	probably damaging	Het
Ipp	T	C	4: 116,389,841 (GRCm39)	S466P	probably benign	Het
Iqgap2	A	G	13: 95,798,131 (GRCm39)	V1058A	probably damaging	Het
Jmy	A	T	13: 93,601,103 (GRCm39)	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,747,492 (GRCm39)		probably benign	Het
Mogs	T	G	6: 83,092,816 (GRCm39)	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,964,087 (GRCm39)	D863V	probably damaging	Het
Mtmr10	A	T	7: 63,947,213 (GRCm39)	I43F	probably damaging	Het
Mtr	T	C	13: 12,213,963 (GRCm39)	D903G	probably benign	Het
Ncor1	A	G	11: 62,274,082 (GRCm39)	V186A	probably benign	Het
Notch3	C	T	17: 32,373,793 (GRCm39)	D472N	possibly damaging	Het
Or4k44	A	T	2: 111,368,597 (GRCm39)	F12L	probably damaging	Het
Or6c68	T	C	10: 129,157,728 (GRCm39)	F79L	probably damaging	Het
Or8j3c	A	G	2: 86,253,582 (GRCm39)	F146S	probably benign	Het
Or9i1	T	C	19: 13,839,381 (GRCm39)	S75P	probably damaging	Het
Oxr1	T	G	15: 41,686,758 (GRCm39)	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,642,100 (GRCm39)	C1319S	probably damaging	Het
Papss1	A	C	3: 131,348,857 (GRCm39)	K623N	probably damaging	Het
Parp4	T	C	14: 56,875,375 (GRCm39)	F1198S	probably benign	Het
Pcare	T	A	17: 72,057,850 (GRCm39)	Q609L	probably damaging	Het
Pcnt	A	T	10: 76,225,086 (GRCm39)	V1806D	probably benign	Het
Pitx2	A	T	3: 129,009,375 (GRCm39)	H98L	probably damaging	Het
Polq	C	A	16: 36,911,496 (GRCm39)	D2410E	probably benign	Het
Prdm9	C	T	17: 15,764,890 (GRCm39)	C630Y	probably damaging	Het
Preb	A	T	5: 31,115,839 (GRCm39)	D201E	probably damaging	Het
Rasa3	A	T	8: 13,645,887 (GRCm39)	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,397 (GRCm39)	S147T	probably damaging	Het
Rev3l	A	G	10: 39,697,441 (GRCm39)	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,840,619 (GRCm39)	E128G	probably damaging	Het
Slamf7	A	C	1: 171,466,762 (GRCm39)	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,084,691 (GRCm39)	S194P	probably damaging	Het
Spata31	C	T	13: 65,070,726 (GRCm39)	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stradb	A	G	1: 59,027,739 (GRCm39)	I90V	probably benign	Het
Tas2r134	A	G	2: 51,518,166 (GRCm39)	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,685,025 (GRCm39)	K1209E	probably damaging	Het
Thbs1	A	G	2: 117,953,409 (GRCm39)	D942G	probably damaging	Het
Tmem107	C	T	11: 68,963,633 (GRCm39)	P139S	probably benign	Het
Tmem216	A	T	19: 10,529,266 (GRCm39)	M40K	probably benign	Het
Tpte	A	G	8: 22,845,498 (GRCm39)	Y516C	probably damaging	Het
Trim54	G	A	5: 31,291,431 (GRCm39)	G184D	possibly damaging	Het
Try5	A	T	6: 41,288,748 (GRCm39)	L157Q	probably benign	Het
Ubqlnl	G	A	7: 103,797,697 (GRCm39)	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,048,768 (GRCm39)	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,554,885 (GRCm39)	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,877,682 (GRCm39)	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 20,832,198 (GRCm39)	R81*	probably null	Het
Vmn1r203	C	A	13: 22,708,588 (GRCm39)	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,831,654 (GRCm39)	V550A	probably benign	Het
Wdr49	A	T	3: 75,358,193 (GRCm39)	M184K	probably damaging	Het
Wipi2	A	G	5: 142,643,987 (GRCm39)	N123S	probably damaging	Het
Zc3h7b	C	A	15: 81,662,086 (GRCm39)	S385*	probably null	Het
Zhx2	T	A	15: 57,686,658 (GRCm39)	F676I	probably damaging	Het

Other mutations in Zbtb14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Zbtb14	APN	17	69,695,184 (GRCm39)	missense	probably benign	0.04
IGL01623:Zbtb14	APN	17	69,695,184 (GRCm39)	missense	probably benign	0.04
IGL02477:Zbtb14	APN	17	69,694,690 (GRCm39)	missense	probably benign	0.00
PIT4687001:Zbtb14	UTSW	17	69,695,302 (GRCm39)	nonsense	probably null
R0736:Zbtb14	UTSW	17	69,694,797 (GRCm39)	missense	possibly damaging	0.66
R0811:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R0812:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R0829:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R0866:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R0946:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R0947:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1052:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1053:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1056:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1076:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1187:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1374:Zbtb14	UTSW	17	69,694,575 (GRCm39)	missense	probably damaging	1.00
R1471:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1505:Zbtb14	UTSW	17	69,694,759 (GRCm39)	missense	probably benign	0.00
R1507:Zbtb14	UTSW	17	69,694,759 (GRCm39)	missense	probably benign	0.00
R1508:Zbtb14	UTSW	17	69,694,759 (GRCm39)	missense	probably benign	0.00
R1509:Zbtb14	UTSW	17	69,694,759 (GRCm39)	missense	probably benign	0.00
R1514:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1680:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1691:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R1712:Zbtb14	UTSW	17	69,694,575 (GRCm39)	missense	probably damaging	1.00
R1907:Zbtb14	UTSW	17	69,694,385 (GRCm39)	missense	possibly damaging	0.91
R1981:Zbtb14	UTSW	17	69,695,497 (GRCm39)	missense	probably damaging	1.00
R2916:Zbtb14	UTSW	17	69,695,214 (GRCm39)	missense	probably damaging	1.00
R2918:Zbtb14	UTSW	17	69,695,214 (GRCm39)	missense	probably damaging	1.00
R4589:Zbtb14	UTSW	17	69,695,465 (GRCm39)	missense	probably damaging	1.00
R4622:Zbtb14	UTSW	17	69,695,342 (GRCm39)	missense	possibly damaging	0.80
R4812:Zbtb14	UTSW	17	69,694,577 (GRCm39)	missense	probably damaging	1.00
R6246:Zbtb14	UTSW	17	69,694,478 (GRCm39)	missense	possibly damaging	0.46
R6889:Zbtb14	UTSW	17	69,694,674 (GRCm39)	missense	probably damaging	1.00
R7716:Zbtb14	UTSW	17	69,694,415 (GRCm39)	missense	probably benign
R8976:Zbtb14	UTSW	17	69,694,752 (GRCm39)	missense	possibly damaging	0.95
R9341:Zbtb14	UTSW	17	69,695,576 (GRCm39)	missense	probably damaging	0.97
R9343:Zbtb14	UTSW	17	69,695,576 (GRCm39)	missense	probably damaging	0.97
R9638:Zbtb14	UTSW	17	69,695,375 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGTGTACTAGGTTCATATTAAACACC -3'
(R):5'- CATCGCGCTTCTGAGAACAC -3'

Sequencing Primer
(F):5'- CACCTTTAAAATTTCCTTTGCAGG -3'
(R):5'- GCGCTTCTGAGAACACAGTTTATC -3'

Posted On

2019-10-24