Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:Zfp780b'

438503

Institutional Source

Beutler Lab

Gene Symbol

Zfp780b

Ensembl Gene

ENSMUSG00000063047

Gene Name

zinc finger protein 780B

Synonyms

B230208L21Rik

MMRRC Submission

043136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27658560-27678596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27664252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 101 (N101I)

Ref Sequence

ENSEMBL: ENSMUSP00000146224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081618] [ENSMUST00000205874] [ENSMUST00000206685]

AlphaFold

E9Q2S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000081618
AA Change: N101I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: N101I

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	171	193	2.91e-2	SMART
ZnF_C2H2	199	221	3.44e-4	SMART
ZnF_C2H2	227	249	3.11e-2	SMART
ZnF_C2H2	255	277	2.4e-3	SMART
ZnF_C2H2	283	305	2.15e-5	SMART
ZnF_C2H2	311	333	1.18e-2	SMART
ZnF_C2H2	339	361	1.47e-3	SMART
ZnF_C2H2	367	389	1.79e-2	SMART
ZnF_C2H2	395	417	2.24e-3	SMART
ZnF_C2H2	423	445	7.9e-4	SMART
ZnF_C2H2	451	473	8.34e-3	SMART
ZnF_C2H2	479	501	7.9e-4	SMART
ZnF_C2H2	507	529	3.16e-3	SMART
ZnF_C2H2	535	557	1.58e-3	SMART
ZnF_C2H2	563	585	9.08e-4	SMART
ZnF_C2H2	591	613	1.36e-2	SMART
ZnF_C2H2	619	641	1.04e-3	SMART
ZnF_C2H2	647	669	1.2e-3	SMART
ZnF_C2H2	675	697	2.24e-3	SMART
ZnF_C2H2	703	725	1.03e-2	SMART
ZnF_C2H2	731	753	4.17e-3	SMART
ZnF_C2H2	759	781	1.78e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205431

Predicted Effect

probably benign
Transcript: ENSMUST00000205874

Predicted Effect

probably damaging
Transcript: ENSMUST00000206685
AA Change: N101I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.4485

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,586,639 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,399,245 (GRCm39)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm39)	R96L	probably damaging	Het
Ank2	T	C	3: 126,739,954 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,788 (GRCm39)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,043,719 (GRCm39)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,076,979 (GRCm39)	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,965,573 (GRCm39)		probably null	Het
Cdk5rap1	T	A	2: 154,187,894 (GRCm39)	E477D	probably benign	Het
Cfap65	G	A	1: 74,946,677 (GRCm39)		probably benign	Het
Chdh	A	G	14: 29,758,816 (GRCm39)	Y587C	probably damaging	Het
Chek2	T	C	5: 111,015,901 (GRCm39)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,320,781 (GRCm39)	I326S	probably damaging	Het
Clic6	A	T	16: 92,296,342 (GRCm39)	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,276,319 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,693,433 (GRCm39)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,505,295 (GRCm39)		probably benign	Het
Gm6124	A	G	7: 38,869,622 (GRCm39)		noncoding transcript	Het
H3f3a	A	T	1: 180,637,650 (GRCm39)		probably benign	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,374,048 (GRCm39)		probably benign	Het
Idh2	CCAGGGC	CC	7: 79,748,087 (GRCm39)		probably null	Het
Igkv3-7	A	G	6: 70,584,990 (GRCm39)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,266,345 (GRCm39)	T399M	possibly damaging	Het
Kctd19	G	A	8: 106,135,075 (GRCm39)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,230,643 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,990,802 (GRCm39)		probably null	Het
Or11h23	T	C	14: 50,948,425 (GRCm39)	Y213H	probably damaging	Het
Or1j12	T	C	2: 36,343,233 (GRCm39)	I212T	probably benign	Het
Otop3	T	A	11: 115,230,165 (GRCm39)	M14K	unknown	Het
Pibf1	C	T	14: 99,374,566 (GRCm39)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,767,522 (GRCm39)	L1256*	probably null	Het
Plbd2	T	C	5: 120,631,171 (GRCm39)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,266,219 (GRCm39)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,836,373 (GRCm39)	T229M	probably damaging	Het
Prr14	A	T	7: 127,075,569 (GRCm39)	I526F	probably damaging	Het
Scel	T	C	14: 103,820,575 (GRCm39)		probably benign	Het
Scn9a	A	T	2: 66,395,373 (GRCm39)		probably benign	Het
Senp6	T	A	9: 79,997,158 (GRCm39)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,091,886 (GRCm39)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,462,754 (GRCm39)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,704,729 (GRCm39)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Slitrk3	G	T	3: 72,957,737 (GRCm39)	P345Q	probably benign	Het
Slx4	T	C	16: 3,803,652 (GRCm39)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,210,083 (GRCm39)	T898S	probably damaging	Het
Tg	C	T	15: 66,565,284 (GRCm39)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,978,689 (GRCm39)	V294L	probably benign	Het
Tnks	G	A	8: 35,408,015 (GRCm39)	R238C	probably benign	Het
Tsn	G	A	1: 118,232,944 (GRCm39)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,731,814 (GRCm39)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,745,888 (GRCm39)	M849V	probably benign	Het
Usp13	T	C	3: 32,965,738 (GRCm39)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,314,435 (GRCm39)	Y20H	probably damaging	Het
Zfp1001	T	C	2: 150,204,972 (GRCm39)		probably benign	Het

Other mutations in Zfp780b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Zfp780b	APN	7	27,664,186 (GRCm39)	missense	probably benign
IGL03088:Zfp780b	APN	7	27,662,417 (GRCm39)	missense	possibly damaging	0.84
IGL03211:Zfp780b	APN	7	27,662,600 (GRCm39)	missense	possibly damaging	0.93
R0403:Zfp780b	UTSW	7	27,671,114 (GRCm39)	missense	possibly damaging	0.47
R1458:Zfp780b	UTSW	7	27,664,252 (GRCm39)	missense	probably damaging	0.99
R1550:Zfp780b	UTSW	7	27,664,282 (GRCm39)	missense	probably benign
R1694:Zfp780b	UTSW	7	27,663,808 (GRCm39)	missense	possibly damaging	0.86
R1823:Zfp780b	UTSW	7	27,662,525 (GRCm39)	missense	possibly damaging	0.93
R2113:Zfp780b	UTSW	7	27,663,298 (GRCm39)	missense	possibly damaging	0.85
R3086:Zfp780b	UTSW	7	27,663,055 (GRCm39)	missense	probably damaging	0.96
R4620:Zfp780b	UTSW	7	27,662,178 (GRCm39)	nonsense	probably null
R5023:Zfp780b	UTSW	7	27,662,873 (GRCm39)	missense	possibly damaging	0.88
R5521:Zfp780b	UTSW	7	27,674,173 (GRCm39)	splice site	probably null
R5677:Zfp780b	UTSW	7	27,662,224 (GRCm39)	missense	probably benign	0.33
R5762:Zfp780b	UTSW	7	27,664,243 (GRCm39)	missense	probably benign
R5998:Zfp780b	UTSW	7	27,664,047 (GRCm39)	missense	probably benign	0.07
R6036:Zfp780b	UTSW	7	27,662,993 (GRCm39)	missense	probably damaging	0.99
R6036:Zfp780b	UTSW	7	27,662,993 (GRCm39)	missense	probably damaging	0.99
R6050:Zfp780b	UTSW	7	27,663,727 (GRCm39)	missense	probably damaging	0.98
R6702:Zfp780b	UTSW	7	27,671,066 (GRCm39)	missense	possibly damaging	0.91
R6703:Zfp780b	UTSW	7	27,671,066 (GRCm39)	missense	possibly damaging	0.91
R7112:Zfp780b	UTSW	7	27,662,566 (GRCm39)	missense	probably damaging	0.98
R7311:Zfp780b	UTSW	7	27,662,588 (GRCm39)	missense	possibly damaging	0.92
R7469:Zfp780b	UTSW	7	27,663,382 (GRCm39)	missense	probably benign	0.02
R7561:Zfp780b	UTSW	7	27,664,037 (GRCm39)	missense	possibly damaging	0.92
R7847:Zfp780b	UTSW	7	27,663,843 (GRCm39)	missense	probably benign	0.00
R8412:Zfp780b	UTSW	7	27,662,551 (GRCm39)	missense	possibly damaging	0.64
R8824:Zfp780b	UTSW	7	27,662,893 (GRCm39)	missense	probably benign	0.45
R9219:Zfp780b	UTSW	7	27,663,806 (GRCm39)	missense	probably benign	0.24
R9248:Zfp780b	UTSW	7	27,673,143 (GRCm39)	critical splice donor site	probably null
R9642:Zfp780b	UTSW	7	27,664,135 (GRCm39)	missense	probably benign	0.37
X0024:Zfp780b	UTSW	7	27,662,675 (GRCm39)	missense	probably damaging	0.99
Z1186:Zfp780b	UTSW	7	27,664,082 (GRCm39)	missense	probably benign
Z1186:Zfp780b	UTSW	7	27,663,968 (GRCm39)	missense	possibly damaging	0.73
Z1186:Zfp780b	UTSW	7	27,663,250 (GRCm39)	missense	probably benign
Z1186:Zfp780b	UTSW	7	27,674,203 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGCAAGAGTCTGGCAG -3'
(R):5'- TAGAGATGTCTTCCCATTTCTAACC -3'

Sequencing Primer
(F):5'- CAAGAGTCTGGCAGGTGTG -3'
(R):5'- AACCTGTTCTACTGTAAACTATTGTC -3'

Posted On

2016-10-26