Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Zbtb41'

41273

Institutional Source

Beutler Lab

Gene Symbol

Zbtb41

Ensembl Gene

ENSMUSG00000033964

Gene Name

zinc finger and BTB domain containing 41

Synonyms

8430415N23Rik, 9830132G07Rik

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R0458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139350026-139380743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139351214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 109 (V109A)

Ref Sequence

ENSEMBL: ENSMUSP00000142797 (fasta)

Gene Model

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

AlphaFold

Q811F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039867
AA Change: V109A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: V109A

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

probably damaging
Transcript: ENSMUST00000200243
AA Change: V109A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: V109A

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

0.1159

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Atp6v1b1	A	T	6: 83,729,390 (GRCm39)	D109V	probably damaging	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	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
R0048:Zbtb41	UTSW	1	139,369,572 (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
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

Predicted Primers

PCR Primer
(F):5'- TTGCAGACCATGAAACGGTGGG -3'
(R):5'- GGCCTGAAAGGCAGCAACATTCTC -3'

Sequencing Primer
(F):5'- CTCTTCGGAAGAAAATGCTGCTG -3'
(R):5'- AGCAGCTTTACCGCATCG -3'

Posted On

2013-05-23