Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Zbtb41'

16209

Institutional Source

Beutler Lab

Gene Symbol

Zbtb41

Ensembl Gene

ENSMUSG00000033964

Gene Name

zinc finger and BTB domain containing 41

Synonyms

8430415N23Rik, 9830132G07Rik

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

139350026-139380743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139369572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 650 (K650E)

Ref Sequence

ENSEMBL: ENSMUSP00000045570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039867] [ENSMUST00000200243]

AlphaFold

Q811F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039867
AA Change: K650E

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

SMART Domains

Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: K650E

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
BTB	89	183	7.06e-16	SMART
ZnF_C2H2	208	231	3.78e-1	SMART
low complexity region	234	245	N/A	INTRINSIC
low complexity region	265	279	N/A	INTRINSIC
low complexity region	301	327	N/A	INTRINSIC
ZnF_C2H2	360	382	4.17e-3	SMART
ZnF_C2H2	388	410	8.34e-3	SMART
ZnF_C2H2	421	444	2.67e-1	SMART
ZnF_C2H2	462	484	1.72e-4	SMART
ZnF_C2H2	490	513	1.41e0	SMART
ZnF_C2H2	517	540	1.12e-3	SMART
ZnF_C2H2	546	568	1.36e-2	SMART
ZnF_C2H2	574	596	2.91e-2	SMART
ZnF_C2H2	602	624	7.37e-4	SMART
ZnF_C2H2	630	653	3.39e-3	SMART
ZnF_C2H2	667	689	2.75e-3	SMART
ZnF_C2H2	695	717	3.16e-3	SMART
ZnF_C2H2	723	746	3.34e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199011

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200243
AA Change: K650E

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: K650E

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
BTB	89	183	4.7e-18	SMART
ZnF_C2H2	208	231	1.6e-3	SMART
low complexity region	234	245	N/A	INTRINSIC
low complexity region	265	279	N/A	INTRINSIC
low complexity region	301	327	N/A	INTRINSIC
ZnF_C2H2	360	382	1.7e-5	SMART
ZnF_C2H2	388	410	3.5e-5	SMART
ZnF_C2H2	421	444	1.1e-3	SMART
ZnF_C2H2	462	484	7.2e-7	SMART
ZnF_C2H2	490	513	5.9e-3	SMART
ZnF_C2H2	517	540	4.7e-6	SMART
ZnF_C2H2	546	568	5.7e-5	SMART
ZnF_C2H2	574	596	1.3e-4	SMART
ZnF_C2H2	602	624	3e-6	SMART
ZnF_C2H2	630	653	1.5e-5	SMART

Meta Mutation Damage Score

0.6572

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Cblif	G	A	19: 11,727,120 (GRCm39)	V110M	possibly damaging	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,432,244 (GRCm39)	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Eno4	T	C	19: 58,952,970 (GRCm39)	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Or13c3	C	A	4: 52,856,196 (GRCm39)	A106S	probably damaging	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zfp532	A	G	18: 65,777,404 (GRCm39)	Y887C	probably damaging	Het

Other mutations in Zbtb41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Zbtb41	APN	1	139,358,062 (GRCm39)	missense	probably benign	0.01
IGL01796:Zbtb41	APN	1	139,370,621 (GRCm39)	missense	probably damaging	0.99
IGL01844:Zbtb41	APN	1	139,375,065 (GRCm39)	missense	probably benign	0.01
IGL02150:Zbtb41	APN	1	139,368,186 (GRCm39)	missense	possibly damaging	0.73
IGL02346:Zbtb41	APN	1	139,374,838 (GRCm39)	missense	probably damaging	1.00
IGL03139:Zbtb41	APN	1	139,351,576 (GRCm39)	missense	probably benign	0.00
IGL03215:Zbtb41	APN	1	139,374,688 (GRCm39)	missense	probably damaging	1.00
IGL03309:Zbtb41	APN	1	139,359,816 (GRCm39)	critical splice donor site	probably null
memorialized	UTSW	1	139,368,132 (GRCm39)	missense	probably benign	0.00
Noted	UTSW	1	139,366,769 (GRCm39)	missense	probably damaging	0.99
R7584_zbtb41_939	UTSW	1	139,351,795 (GRCm39)	missense	probably benign	0.14
unforgotten	UTSW	1	139,359,816 (GRCm39)	critical splice donor site	probably null
R0004:Zbtb41	UTSW	1	139,370,626 (GRCm39)	missense	possibly damaging	0.90
R0010:Zbtb41	UTSW	1	139,351,268 (GRCm39)	missense	probably damaging	1.00
R0010:Zbtb41	UTSW	1	139,351,268 (GRCm39)	missense	probably damaging	1.00
R0230:Zbtb41	UTSW	1	139,374,673 (GRCm39)	missense	probably damaging	1.00
R0309:Zbtb41	UTSW	1	139,366,722 (GRCm39)	missense	probably damaging	0.99
R0458:Zbtb41	UTSW	1	139,351,214 (GRCm39)	missense	probably damaging	1.00
R0606:Zbtb41	UTSW	1	139,351,348 (GRCm39)	missense	probably benign	0.28
R0964:Zbtb41	UTSW	1	139,366,769 (GRCm39)	missense	probably damaging	0.99
R1531:Zbtb41	UTSW	1	139,350,931 (GRCm39)	missense	probably benign	0.00
R1723:Zbtb41	UTSW	1	139,351,301 (GRCm39)	missense	probably benign	0.39
R1765:Zbtb41	UTSW	1	139,368,132 (GRCm39)	missense	probably benign	0.00
R1829:Zbtb41	UTSW	1	139,374,660 (GRCm39)	nonsense	probably null
R2077:Zbtb41	UTSW	1	139,351,831 (GRCm39)	missense	probably damaging	1.00
R2292:Zbtb41	UTSW	1	139,368,097 (GRCm39)	missense	probably damaging	0.99
R2380:Zbtb41	UTSW	1	139,351,552 (GRCm39)	missense	probably damaging	0.99
R2402:Zbtb41	UTSW	1	139,350,925 (GRCm39)	nonsense	probably null
R2402:Zbtb41	UTSW	1	139,350,923 (GRCm39)	missense	probably benign	0.10
R3847:Zbtb41	UTSW	1	139,351,734 (GRCm39)	missense	probably benign
R3848:Zbtb41	UTSW	1	139,351,734 (GRCm39)	missense	probably benign
R3849:Zbtb41	UTSW	1	139,351,734 (GRCm39)	missense	probably benign
R4077:Zbtb41	UTSW	1	139,357,064 (GRCm39)	missense	probably benign	0.11
R4641:Zbtb41	UTSW	1	139,370,557 (GRCm39)	missense	probably damaging	0.98
R4772:Zbtb41	UTSW	1	139,375,152 (GRCm39)	missense	probably damaging	1.00
R5646:Zbtb41	UTSW	1	139,351,501 (GRCm39)	missense	probably benign	0.05
R5754:Zbtb41	UTSW	1	139,359,816 (GRCm39)	critical splice donor site	probably null
R6002:Zbtb41	UTSW	1	139,351,397 (GRCm39)	missense	probably damaging	1.00
R6045:Zbtb41	UTSW	1	139,351,770 (GRCm39)	missense	probably benign	0.34
R6302:Zbtb41	UTSW	1	139,357,027 (GRCm39)	missense	possibly damaging	0.67
R6318:Zbtb41	UTSW	1	139,358,044 (GRCm39)	missense	possibly damaging	0.91
R6430:Zbtb41	UTSW	1	139,374,945 (GRCm39)	missense	probably benign	0.02
R6906:Zbtb41	UTSW	1	139,351,128 (GRCm39)	missense	possibly damaging	0.59
R7584:Zbtb41	UTSW	1	139,351,795 (GRCm39)	missense	probably benign	0.14
R7753:Zbtb41	UTSW	1	139,374,895 (GRCm39)	missense	probably benign
R8132:Zbtb41	UTSW	1	139,350,955 (GRCm39)	missense	probably benign	0.00
R8138:Zbtb41	UTSW	1	139,369,545 (GRCm39)	missense	probably damaging	1.00
R8205:Zbtb41	UTSW	1	139,356,919 (GRCm39)	missense	possibly damaging	0.96
R8823:Zbtb41	UTSW	1	139,350,892 (GRCm39)	missense	probably damaging	1.00
R8967:Zbtb41	UTSW	1	139,370,587 (GRCm39)	missense	probably benign
R9431:Zbtb41	UTSW	1	139,350,781 (GRCm39)	start gained	probably benign
R9500:Zbtb41	UTSW	1	139,359,806 (GRCm39)	missense	probably damaging	1.00
R9559:Zbtb41	UTSW	1	139,358,053 (GRCm39)	missense	probably benign	0.14
R9603:Zbtb41	UTSW	1	139,375,255 (GRCm39)	missense	probably damaging	1.00
R9789:Zbtb41	UTSW	1	139,368,084 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbtb41	UTSW	1	139,351,154 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-08