Mutagenetix > Incidental Mutation

Incidental Mutation 'R4125:Zfp946'

315376

Institutional Source

Beutler Lab

Gene Symbol

Zfp946

Ensembl Gene

ENSMUSG00000071266

Gene Name

zinc finger protein 946

Synonyms

1300003B13Rik

MMRRC Submission

041633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22643203-22675670 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 22673548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 101 (Q101*)

Ref Sequence

ENSEMBL: ENSMUSP00000132940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088763] [ENSMUST00000120222] [ENSMUST00000167740]

AlphaFold

F6VWU8

Predicted Effect

probably null
Transcript: ENSMUST00000088763
AA Change: Q101*

SMART Domains

Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: Q101*

Domain	Start	End	E-Value	Type
KRAB	13	71	4.49e-17	SMART
ZnF_C2H2	186	208	3.83e-2	SMART
ZnF_C2H2	242	264	1.6e-4	SMART
ZnF_C2H2	270	292	1.45e-2	SMART
ZnF_C2H2	298	320	5.99e-4	SMART
ZnF_C2H2	326	348	2.15e-5	SMART
ZnF_C2H2	354	376	2.4e-3	SMART
ZnF_C2H2	382	404	1.28e-3	SMART
ZnF_C2H2	410	432	2.09e-3	SMART
ZnF_C2H2	438	460	9.44e-2	SMART
ZnF_C2H2	466	488	3.44e-4	SMART
ZnF_C2H2	494	516	1.5e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120222
AA Change: Q101*

SMART Domains

Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: Q101*

Domain	Start	End	E-Value	Type
KRAB	13	71	4.49e-17	SMART
ZnF_C2H2	186	208	3.83e-2	SMART
ZnF_C2H2	242	264	1.6e-4	SMART
ZnF_C2H2	270	292	1.45e-2	SMART
ZnF_C2H2	298	320	5.99e-4	SMART
ZnF_C2H2	326	348	2.15e-5	SMART
ZnF_C2H2	354	376	2.4e-3	SMART
ZnF_C2H2	382	404	1.28e-3	SMART
ZnF_C2H2	410	432	2.09e-3	SMART
ZnF_C2H2	438	460	9.44e-2	SMART
ZnF_C2H2	466	488	3.44e-4	SMART
ZnF_C2H2	494	516	1.5e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167740
AA Change: Q101*

SMART Domains

Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: Q101*

Domain	Start	End	E-Value	Type
KRAB	13	71	4.49e-17	SMART
ZnF_C2H2	186	208	3.83e-2	SMART
ZnF_C2H2	242	264	1.6e-4	SMART
ZnF_C2H2	270	292	1.45e-2	SMART
ZnF_C2H2	298	320	5.99e-4	SMART
ZnF_C2H2	326	348	2.15e-5	SMART
ZnF_C2H2	354	376	2.4e-3	SMART
ZnF_C2H2	382	404	1.28e-3	SMART
ZnF_C2H2	410	432	2.09e-3	SMART
ZnF_C2H2	438	460	9.44e-2	SMART
ZnF_C2H2	466	488	3.44e-4	SMART
ZnF_C2H2	494	516	1.5e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	T	A	3: 98,068,679 (GRCm39)	C43S	probably damaging	Het
Adamts6	A	T	13: 104,449,412 (GRCm39)	Y274F	probably damaging	Het
Ap2b1	A	G	11: 83,256,471 (GRCm39)		probably null	Het
Atm	A	C	9: 53,361,921 (GRCm39)	L2732R	probably damaging	Het
Bbox1	A	G	2: 110,100,525 (GRCm39)	V224A	probably benign	Het
Bmpr1a	T	C	14: 34,156,690 (GRCm39)	D112G	probably benign	Het
Cdk19	A	G	10: 40,270,391 (GRCm39)	I67V	probably benign	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Chd9	A	G	8: 91,777,912 (GRCm39)	D2641G	probably damaging	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Chuk	T	C	19: 44,088,613 (GRCm39)	I121V	probably null	Het
Ctsr	A	T	13: 61,309,659 (GRCm39)	D183E	probably benign	Het
Elp3	T	C	14: 65,797,630 (GRCm39)	E347G	possibly damaging	Het
Fhip1a	A	G	3: 85,572,690 (GRCm39)	S988P	possibly damaging	Het
Gnas	A	G	2: 174,141,958 (GRCm39)	N709S	possibly damaging	Het
Gramd2b	T	C	18: 56,618,296 (GRCm39)	S199P	probably damaging	Het
Gtf3c1	A	T	7: 125,246,622 (GRCm39)	C1562*	probably null	Het
Ifit1bl1	T	A	19: 34,572,188 (GRCm39)	I90F	probably damaging	Het
Igf2r	A	T	17: 12,921,141 (GRCm39)	H1313Q	possibly damaging	Het
Ighj4	T	C	12: 113,392,176 (GRCm39)		probably benign	Het
Kansl2	G	T	15: 98,429,636 (GRCm39)	P132Q	possibly damaging	Het
Lman1	T	C	18: 66,120,932 (GRCm39)	H430R	possibly damaging	Het
Lrrk2	T	C	15: 91,699,686 (GRCm39)	I2511T	probably benign	Het
Lvrn	C	A	18: 47,010,036 (GRCm39)	P395T	possibly damaging	Het
Myrip	C	A	9: 120,293,764 (GRCm39)	S753*	probably null	Het
Nectin4	A	G	1: 171,213,301 (GRCm39)	S408G	probably benign	Het
Or14j8	A	G	17: 38,263,681 (GRCm39)	I78T	probably benign	Het
Or52ae9	T	C	7: 103,390,207 (GRCm39)	K80R	probably benign	Het
Pcdhb13	T	C	18: 37,576,873 (GRCm39)	I417T	probably damaging	Het
Per2	T	C	1: 91,357,172 (GRCm39)	T664A	possibly damaging	Het
Plec	A	T	15: 76,056,962 (GRCm39)	L4347Q	probably damaging	Het
Poln	A	G	5: 34,261,295 (GRCm39)	S561P	probably benign	Het
Polr1a	T	C	6: 71,942,690 (GRCm39)	F1177L	probably benign	Het
Pramel24	C	T	4: 143,452,850 (GRCm39)	R94*	probably null	Het
Ptprb	A	T	10: 116,189,754 (GRCm39)	R1804S	probably benign	Het
Rhof	C	T	5: 123,257,588 (GRCm39)	V181M	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc22a12	T	C	19: 6,588,818 (GRCm39)	E281G	probably damaging	Het
Slco6b1	T	A	1: 96,915,622 (GRCm39)		noncoding transcript	Het
Stac	C	A	9: 111,433,126 (GRCm39)		probably null	Het
Tcof1	C	A	18: 60,952,673 (GRCm39)	A898S	unknown	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Thoc6	A	T	17: 23,888,319 (GRCm39)		probably benign	Het
Tmem179	A	T	12: 112,477,461 (GRCm39)	F8I	possibly damaging	Het
Tnpo3	A	G	6: 29,560,091 (GRCm39)	L684P	probably damaging	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Umps	G	A	16: 33,777,288 (GRCm39)	Q431*	probably null	Het
Unc13c	A	G	9: 73,481,289 (GRCm39)		probably null	Het
Vmn1r210	A	T	13: 23,011,779 (GRCm39)	M169K	probably benign	Het

Other mutations in Zfp946

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Zfp946	APN	17	22,673,643 (GRCm39)	missense	possibly damaging	0.88
IGL01869:Zfp946	APN	17	22,673,684 (GRCm39)	missense	probably benign	0.45
IGL02037:Zfp946	APN	17	22,672,469 (GRCm39)	missense	probably damaging	1.00
IGL03111:Zfp946	APN	17	22,673,537 (GRCm39)	missense	possibly damaging	0.76
R0324:Zfp946	UTSW	17	22,673,417 (GRCm39)	missense	probably benign	0.41
R1252:Zfp946	UTSW	17	22,672,560 (GRCm39)	critical splice donor site	probably null
R1733:Zfp946	UTSW	17	22,672,538 (GRCm39)	missense	probably damaging	1.00
R1971:Zfp946	UTSW	17	22,674,406 (GRCm39)	missense	probably damaging	1.00
R2064:Zfp946	UTSW	17	22,674,446 (GRCm39)	missense	probably damaging	1.00
R2106:Zfp946	UTSW	17	22,672,466 (GRCm39)	missense	probably benign	0.30
R2216:Zfp946	UTSW	17	22,673,697 (GRCm39)	missense	possibly damaging	0.49
R3899:Zfp946	UTSW	17	22,673,531 (GRCm39)	missense	probably benign	0.05
R3924:Zfp946	UTSW	17	22,674,682 (GRCm39)	missense	probably benign	0.06
R4493:Zfp946	UTSW	17	22,670,067 (GRCm39)	splice site	probably null
R4694:Zfp946	UTSW	17	22,674,692 (GRCm39)	missense	probably benign	0.16
R4924:Zfp946	UTSW	17	22,674,502 (GRCm39)	missense	probably damaging	1.00
R4939:Zfp946	UTSW	17	22,674,418 (GRCm39)	missense	probably damaging	1.00
R5020:Zfp946	UTSW	17	22,674,584 (GRCm39)	missense	probably benign	0.03
R5248:Zfp946	UTSW	17	22,673,447 (GRCm39)	missense	probably benign	0.12
R5547:Zfp946	UTSW	17	22,673,873 (GRCm39)	missense	probably benign	0.00
R5551:Zfp946	UTSW	17	22,674,365 (GRCm39)	missense	probably damaging	1.00
R5573:Zfp946	UTSW	17	22,673,676 (GRCm39)	nonsense	probably null
R6048:Zfp946	UTSW	17	22,673,821 (GRCm39)	missense	probably benign	0.03
R6080:Zfp946	UTSW	17	22,674,090 (GRCm39)	missense	probably benign	0.00
R6198:Zfp946	UTSW	17	22,673,896 (GRCm39)	missense	probably damaging	1.00
R6332:Zfp946	UTSW	17	22,673,519 (GRCm39)	missense	probably damaging	1.00
R6766:Zfp946	UTSW	17	22,674,752 (GRCm39)	missense	probably benign	0.01
R7132:Zfp946	UTSW	17	22,673,644 (GRCm39)	missense	probably benign	0.41
R7248:Zfp946	UTSW	17	22,672,489 (GRCm39)	nonsense	probably null
R7695:Zfp946	UTSW	17	22,674,002 (GRCm39)	missense	probably benign	0.05
R8113:Zfp946	UTSW	17	22,674,481 (GRCm39)	missense	probably damaging	1.00
R9380:Zfp946	UTSW	17	22,673,680 (GRCm39)	missense	probably benign	0.06
R9408:Zfp946	UTSW	17	22,673,569 (GRCm39)	missense	possibly damaging	0.83
X0065:Zfp946	UTSW	17	22,674,494 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTGAAACAAAAGACCGCTCTTAC -3'
(R):5'- ATCAAACTCTGTACCATTGTGTTC -3'

Sequencing Primer
(F):5'- ACGAGCTCTATCCTTGAGATTTATC -3'
(R):5'- CAAGGTTCTCTGATGTTTCC -3'

Posted On

2015-05-14