Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:Zbtb14'

168653

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

039561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69690170-69697747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69695497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 398 (F398L)

Ref Sequence

ENSEMBL: ENSMUSP00000108296 (fasta)

Gene Model

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

AlphaFold

Q08376

Predicted Effect

probably damaging
Transcript: ENSMUST00000062369
AA Change: F398L

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

SMART Domains

Protein: ENSMUSP00000054897
Gene: ENSMUSG00000049672
AA Change: F398L

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: F398L

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

SMART Domains

Protein: ENSMUSP00000108294
Gene: ENSMUSG00000049672
AA Change: F398L

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: F398L

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

SMART Domains

Protein: ENSMUSP00000108296
Gene: ENSMUSG00000049672
AA Change: F398L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,448,729 (GRCm39)	L147Q	probably damaging	Het
Aadacl4fm5	T	C	4: 144,504,329 (GRCm39)	N274S	probably damaging	Het
Abcb1a	A	G	5: 8,724,791 (GRCm39)	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,337,597 (GRCm39)	L495*	probably null	Het
Add1	T	C	5: 34,767,961 (GRCm39)	I240T	probably benign	Het
Adgra2	C	A	8: 27,611,306 (GRCm39)	S870*	probably null	Het
Amer3	G	A	1: 34,618,408 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,670 (GRCm39)	V486D	probably benign	Het
Bcorl1	T	A	X: 47,494,821 (GRCm39)	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,411,338 (GRCm39)	D282G	possibly damaging	Het
Cep112	A	G	11: 108,362,880 (GRCm39)	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,967,401 (GRCm39)	P26S	probably benign	Het
Crygf	A	C	1: 65,967,197 (GRCm39)	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,466,585 (GRCm39)	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,245,237 (GRCm39)	I105V	probably benign	Het
Dus4l	T	C	12: 31,690,938 (GRCm39)	M238V	probably damaging	Het
Eprs1	G	A	1: 185,114,031 (GRCm39)	M326I	probably damaging	Het
Evpl	T	C	11: 116,114,661 (GRCm39)	T1010A	probably benign	Het
Fam124b	T	C	1: 80,178,148 (GRCm39)	T284A	possibly damaging	Het
Glb1l2	A	G	9: 26,680,420 (GRCm39)		probably benign	Het
Gm16223	T	A	5: 42,225,298 (GRCm39)		probably null	Het
Gm4952	T	A	19: 12,604,278 (GRCm39)	M230K	probably damaging	Het
Gm5828	C	A	1: 16,839,583 (GRCm39)		noncoding transcript	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna16	T	A	4: 88,594,979 (GRCm39)	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,245,027 (GRCm39)	G439D	probably damaging	Het
Kif1c	T	C	11: 70,596,555 (GRCm39)	S257P	probably damaging	Het
Kng1	A	G	16: 22,898,510 (GRCm39)	K456E	probably damaging	Het
Lpxn	T	C	19: 12,801,414 (GRCm39)	L142P	probably damaging	Het
Lratd1	C	T	12: 14,199,864 (GRCm39)	V288M	probably damaging	Het
Med23	A	G	10: 24,768,565 (GRCm39)		probably benign	Het
Mks1	A	T	11: 87,751,937 (GRCm39)	D369V	probably benign	Het
Myo1d	A	T	11: 80,576,734 (GRCm39)	Y114N	probably damaging	Het
Npas2	A	G	1: 39,350,935 (GRCm39)	D126G	possibly damaging	Het
Oga	A	G	19: 45,765,370 (GRCm39)	S146P	probably damaging	Het
Onecut2	T	C	18: 64,474,651 (GRCm39)	F401L	possibly damaging	Het
Or10n1	T	C	9: 39,524,992 (GRCm39)	I43T	probably damaging	Het
Or10v1	A	G	19: 11,873,978 (GRCm39)	T198A	probably benign	Het
Or4f61	T	C	2: 111,922,381 (GRCm39)	I222V	probably benign	Het
Parp11	T	A	6: 127,451,256 (GRCm39)	F102Y	possibly damaging	Het
Pcnx1	C	T	12: 81,965,572 (GRCm39)	H580Y	probably damaging	Het
Pde3b	A	G	7: 114,130,001 (GRCm39)	H852R	probably damaging	Het
Pira1	G	A	7: 3,742,639 (GRCm39)	T23I	possibly damaging	Het
Pou2af1	A	G	9: 51,144,508 (GRCm39)	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,246 (GRCm39)	V1190G	probably benign	Het
Rnf112	T	C	11: 61,341,236 (GRCm39)	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,987,378 (GRCm39)	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,045,834 (GRCm39)	V210A	probably benign	Het
Runx2	C	T	17: 45,046,224 (GRCm39)	A114T	possibly damaging	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Secisbp2	A	G	13: 51,836,131 (GRCm39)	S742G	possibly damaging	Het
Selenow	G	T	7: 15,654,223 (GRCm39)		probably benign	Het
Slc30a4	A	G	2: 122,531,334 (GRCm39)	V226A	probably damaging	Het
Sntb2	A	G	8: 107,718,164 (GRCm39)	N291D	probably damaging	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Spata31e5	T	A	1: 28,817,829 (GRCm39)	T68S	possibly damaging	Het
Specc1	T	A	11: 62,047,358 (GRCm39)	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,344,414 (GRCm39)	*154W	probably null	Het
Taar4	T	A	10: 23,836,510 (GRCm39)	M40K	possibly damaging	Het
Ubr2	A	T	17: 47,311,749 (GRCm39)	L34H	probably damaging	Het
Ubxn6	T	C	17: 56,376,003 (GRCm39)	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,821,825 (GRCm39)	T168S	probably benign	Het
Xirp2	A	T	2: 67,344,667 (GRCm39)	R2303*	probably null	Het
Zfp13	G	T	17: 23,795,386 (GRCm39)	T395K	probably damaging	Het
Zfp281	A	G	1: 136,554,435 (GRCm39)	N471S	probably benign	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
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
R7575:Zbtb14	UTSW	17	69,694,442 (GRCm39)	missense	probably damaging	0.98
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'- TGCGAGGTGTGCGGAAAGTCATTC -3'
(R):5'- GCCACAAAGCGGTCAAAGGTGTTC -3'

Sequencing Primer
(F):5'- CGGAAAGTCATTCATCCGC -3'
(R):5'- AGGTGTTCACTGACTACAGC -3'

Posted On

2014-04-13