Mutagenetix > Incidental Mutation

Incidental Mutation 'R4670:Zbtb4'

348375

Institutional Source

Beutler Lab

Gene Symbol

Zbtb4

Ensembl Gene

ENSMUSG00000018750

Gene Name

zinc finger and BTB domain containing 4

Synonyms

9230111I22Rik, 2310026P19Rik

MMRRC Submission

041926-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4670 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69656738-69674849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69667355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 220 (I220N)

Ref Sequence

ENSEMBL: ENSMUSP00000104280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000132528] [ENSMUST00000153943] [ENSMUST00000156932]

AlphaFold

Q5F293

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108638
AA Change: I220N

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: I220N

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108639
AA Change: I220N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: I220N

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108640
AA Change: I220N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: I220N

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART
ZnF_C2H2	210	230	1.91e1	SMART
low complexity region	240	261	N/A	INTRINSIC
low complexity region	274	283	N/A	INTRINSIC
ZnF_C2H2	285	307	1.53e-1	SMART
ZnF_C2H2	313	335	1.91e1	SMART
ZnF_C2H2	341	364	5.81e-2	SMART
low complexity region	422	445	N/A	INTRINSIC
low complexity region	461	482	N/A	INTRINSIC
low complexity region	485	532	N/A	INTRINSIC
low complexity region	551	568	N/A	INTRINSIC
coiled coil region	601	637	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
ZnF_C2H2	700	722	3.78e-1	SMART
ZnF_C2H2	739	761	6.23e-2	SMART
low complexity region	799	820	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108642

SMART Domains

Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
BTB	30	166	2e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132528

SMART Domains

Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	56	6.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153943

SMART Domains

Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	5.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156932

SMART Domains

Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750

Domain	Start	End	E-Value	Type
Pfam:BTB	20	51	6e-8	PFAM
low complexity region	68	85	N/A	INTRINSIC
low complexity region	123	136	N/A	INTRINSIC

Meta Mutation Damage Score

0.0988

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,130,983 (GRCm39)		probably null	Het
Alb	T	A	5: 90,610,665 (GRCm39)	S82T	probably benign	Het
Arf4	A	G	14: 26,374,248 (GRCm39)		probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Arhgap32	A	G	9: 32,081,441 (GRCm39)	E153G	probably benign	Het
Arhgef18	T	A	8: 3,484,897 (GRCm39)	M200K	probably damaging	Het
Atp1a4	T	A	1: 172,062,567 (GRCm39)	N647Y	probably benign	Het
Atp5f1c	A	T	2: 10,064,428 (GRCm39)	L226Q	probably damaging	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cadm3	T	A	1: 173,174,013 (GRCm39)	T67S	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Chst7	C	A	X: 19,927,110 (GRCm39)	R386S	probably damaging	Het
Cyp4f37	A	T	17: 32,844,126 (GRCm39)	M77L	probably benign	Het
Dnah7b	A	T	1: 46,117,684 (GRCm39)	D50V	probably damaging	Het
Galnt4	A	G	10: 98,945,160 (GRCm39)	D295G	possibly damaging	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm6471	G	A	7: 142,385,360 (GRCm39)		noncoding transcript	Het
Gm6818	T	A	7: 38,101,981 (GRCm39)		noncoding transcript	Het
Gm9271	T	A	7: 39,013,734 (GRCm39)		noncoding transcript	Het
Gpam	A	G	19: 55,084,551 (GRCm39)		probably null	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Ift140	C	A	17: 25,317,935 (GRCm39)		probably benign	Het
Itih5	A	C	2: 10,195,180 (GRCm39)	I191L	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kank1	T	C	19: 25,387,944 (GRCm39)	M511T	probably benign	Het
Krt74	A	T	15: 101,667,304 (GRCm39)		noncoding transcript	Het
Lrrc37a	A	G	11: 103,395,363 (GRCm39)	S21P	probably benign	Het
Lrrc8c	G	A	5: 105,756,240 (GRCm39)	V672I	probably benign	Het
Lypd4	T	C	7: 24,566,151 (GRCm39)	R58G	probably benign	Het
Magi1	A	T	6: 93,663,624 (GRCm39)		probably null	Het
Mefv	T	A	16: 3,526,071 (GRCm39)	L745F	possibly damaging	Het
Myh13	A	T	11: 67,255,564 (GRCm39)	K1645*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nlrp1c-ps	T	C	11: 71,171,382 (GRCm39)		noncoding transcript	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or51aa2	A	G	7: 103,188,393 (GRCm39)	V16A	possibly damaging	Het
Or6k6	T	A	1: 173,945,427 (GRCm39)	M52L	probably benign	Het
Or8k37	T	C	2: 86,469,512 (GRCm39)	D180G	possibly damaging	Het
P2ry12	T	C	3: 59,125,325 (GRCm39)		probably null	Het
Pcx	T	A	19: 4,669,916 (GRCm39)	V861E	probably damaging	Het
Pkp3	C	T	7: 140,662,612 (GRCm39)	P75S	probably benign	Het
Plscr4	T	C	9: 92,364,920 (GRCm39)		probably null	Het
Pole	A	G	5: 110,454,253 (GRCm39)	T923A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rhot2	A	C	17: 26,060,305 (GRCm39)		probably benign	Het
Rsrp1	A	G	4: 134,651,488 (GRCm39)	Y84C	unknown	Het
Sbf2	T	C	7: 109,934,606 (GRCm39)	K1348E	probably damaging	Het
Sgip1	A	T	4: 102,726,951 (GRCm39)	N53Y	probably damaging	Het
Snapc2	A	G	8: 4,304,998 (GRCm39)	T127A	possibly damaging	Het
Snx8	A	G	5: 140,341,713 (GRCm39)		probably null	Het
Spag8	A	G	4: 43,653,378 (GRCm39)		probably benign	Het
Srebf2	T	C	15: 82,076,503 (GRCm39)	F718L	probably damaging	Het
Szt2	C	G	4: 118,233,026 (GRCm39)		probably benign	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Tubgcp4	T	A	2: 121,004,146 (GRCm39)	Y62*	probably null	Het
Usp29	T	A	7: 6,965,914 (GRCm39)	S586T	possibly damaging	Het
Vasp	T	C	7: 18,998,350 (GRCm39)	N108S	probably benign	Het
Vmn1r214	A	G	13: 23,219,141 (GRCm39)	M212V	probably benign	Het
Wipi2	G	C	5: 142,645,345 (GRCm39)	A194P	probably benign	Het
Zcchc2	A	T	1: 105,917,996 (GRCm39)		probably benign	Het
Zfp729a	T	A	13: 67,769,534 (GRCm39)	K232*	probably null	Het
Zfp995	A	T	17: 22,106,320 (GRCm39)	M1K	probably null	Het

Other mutations in Zbtb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Zbtb4	APN	11	69,667,557 (GRCm39)	nonsense	probably null
IGL02178:Zbtb4	APN	11	69,667,255 (GRCm39)	nonsense	probably null
R0092:Zbtb4	UTSW	11	69,670,177 (GRCm39)	missense	probably benign
R0403:Zbtb4	UTSW	11	69,668,465 (GRCm39)	missense	probably damaging	0.99
R1276:Zbtb4	UTSW	11	69,667,045 (GRCm39)	missense	probably damaging	1.00
R1654:Zbtb4	UTSW	11	69,669,995 (GRCm39)	missense	probably damaging	0.98
R1734:Zbtb4	UTSW	11	69,667,289 (GRCm39)	missense	probably benign	0.13
R1762:Zbtb4	UTSW	11	69,669,743 (GRCm39)	missense	probably benign	0.03
R2224:Zbtb4	UTSW	11	69,667,184 (GRCm39)	missense	probably benign	0.43
R2930:Zbtb4	UTSW	11	69,667,342 (GRCm39)	nonsense	probably null
R4998:Zbtb4	UTSW	11	69,669,497 (GRCm39)	missense	probably benign	0.31
R5956:Zbtb4	UTSW	11	69,669,040 (GRCm39)	missense	probably benign	0.29
R5988:Zbtb4	UTSW	11	69,669,790 (GRCm39)	missense	probably damaging	1.00
R6115:Zbtb4	UTSW	11	69,667,148 (GRCm39)	missense	probably damaging	1.00
R6237:Zbtb4	UTSW	11	69,669,069 (GRCm39)	missense	possibly damaging	0.70
R6803:Zbtb4	UTSW	11	69,669,454 (GRCm39)	missense	possibly damaging	0.92
R7395:Zbtb4	UTSW	11	69,666,937 (GRCm39)	missense	possibly damaging	0.58
R7756:Zbtb4	UTSW	11	69,669,368 (GRCm39)	missense	probably benign	0.27
R7758:Zbtb4	UTSW	11	69,669,368 (GRCm39)	missense	probably benign	0.27
R7877:Zbtb4	UTSW	11	69,666,863 (GRCm39)	missense	probably benign	0.39
R8215:Zbtb4	UTSW	11	69,669,598 (GRCm39)	missense	probably benign	0.00
R8306:Zbtb4	UTSW	11	69,668,309 (GRCm39)	missense	probably damaging	1.00
R8407:Zbtb4	UTSW	11	69,669,101 (GRCm39)	missense	probably benign	0.00
R8690:Zbtb4	UTSW	11	69,667,618 (GRCm39)	missense	probably damaging	1.00
R8785:Zbtb4	UTSW	11	69,668,989 (GRCm39)	missense	possibly damaging	0.48
R9032:Zbtb4	UTSW	11	69,672,650 (GRCm39)	missense	probably benign
R9674:Zbtb4	UTSW	11	69,669,973 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTGGCAGAGATTGGAGCTC -3'
(R):5'- ACACACATAGAGCACGTGG -3'

Sequencing Primer
(F):5'- GTATCTCCCGTCTACAGGGC -3'
(R):5'- ATAGAGCACGTGGCCGCC -3'

Posted On

2015-10-08