Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Zfp946'

184537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp946

Ensembl Gene

ENSMUSG00000071266

Gene Name

zinc finger protein 946

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

22424222-22456689 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22453488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 23 (S23P)

Ref Sequence

ENSEMBL: ENSMUSP00000132940 (fasta)

Gene Model

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

AlphaFold

F6VWU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000088763
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: S23P

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 damaging
Transcript: ENSMUST00000120222
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: S23P

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 damaging
Transcript: ENSMUST00000167740
AA Change: S23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: S23P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,828,016		probably benign	Het
Ace2	T	A	X: 164,164,000	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,441,441	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,534,822	T293A	probably damaging	Het
Arhgef19	A	G	4: 141,246,396	T65A	probably damaging	Het
Brf1	A	G	12: 112,993,062		probably null	Het
Cbfb	T	C	8: 105,178,620	S65P	possibly damaging	Het
Chsy1	T	C	7: 66,171,828	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,361,162	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Csmd2	T	C	4: 128,477,470		probably benign	Het
D430041D05Rik	A	G	2: 104,208,214		probably benign	Het
Dsg1c	A	G	18: 20,276,950	T492A	probably benign	Het
Fam160a1	T	G	3: 85,730,632	K120T	probably damaging	Het
Fam3a	G	A	X: 74,386,635	T156I	probably damaging	Het
Fbn2	A	T	18: 58,096,015	C708S	probably damaging	Het
Fgf5	G	A	5: 98,261,972	G127R	probably damaging	Het
Fn3k	A	T	11: 121,435,083	Y32F	probably benign	Het
Frem3	T	C	8: 80,611,489	I137T	probably benign	Het
Hc	T	C	2: 35,013,519	D1041G	probably benign	Het
Heatr6	T	A	11: 83,764,882		probably benign	Het
Hivep1	G	A	13: 42,156,077	A598T	probably benign	Het
Ifngr1	T	C	10: 19,607,259	S254P	probably benign	Het
Kel	T	C	6: 41,697,474	S341G	probably benign	Het
Klra6	A	C	6: 130,013,476	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,136,748		probably null	Het
Mpeg1	C	T	19: 12,463,296	T706I	probably benign	Het
Mrpl41	T	C	2: 24,974,417	D81G	possibly damaging	Het
Olfr1043	G	T	2: 86,162,837	F37L	probably benign	Het
Palld	T	C	8: 61,525,114	R881G	probably damaging	Het
Pdha2	A	T	3: 141,210,901	V282E	probably damaging	Het
Pga5	C	T	19: 10,676,701	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,368,697	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,731,653	T527A	probably benign	Het
Rplp0	G	A	5: 115,561,115	R73Q	probably benign	Het
Smco3	A	G	6: 136,831,199	*226R	probably null	Het
Sugp2	T	C	8: 70,259,674		probably benign	Het
Tsga10	T	C	1: 37,807,017	I343V	probably benign	Het
Ube2q2	A	G	9: 55,168,218	K104E	probably damaging	Het
Ube3a	C	T	7: 59,275,758		probably benign	Het
Usp11	T	C	X: 20,719,142	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,649,067	C137S	probably damaging	Het
Zfp281	T	C	1: 136,627,447	V721A	possibly damaging	Het
Zfyve1	A	G	12: 83,547,920	V766A	probably damaging	Het

Other mutations in Zfp946

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Zfp946	APN	17	22454662	missense	possibly damaging	0.88
IGL01869:Zfp946	APN	17	22454703	missense	probably benign	0.45
IGL03111:Zfp946	APN	17	22454556	missense	possibly damaging	0.76
R0324:Zfp946	UTSW	17	22454436	missense	probably benign	0.41
R1252:Zfp946	UTSW	17	22453579	critical splice donor site	probably null
R1733:Zfp946	UTSW	17	22453557	missense	probably damaging	1.00
R1971:Zfp946	UTSW	17	22455425	missense	probably damaging	1.00
R2064:Zfp946	UTSW	17	22455465	missense	probably damaging	1.00
R2106:Zfp946	UTSW	17	22453485	missense	probably benign	0.30
R2216:Zfp946	UTSW	17	22454716	missense	possibly damaging	0.49
R3899:Zfp946	UTSW	17	22454550	missense	probably benign	0.05
R3924:Zfp946	UTSW	17	22455701	missense	probably benign	0.06
R4125:Zfp946	UTSW	17	22454567	nonsense	probably null
R4493:Zfp946	UTSW	17	22451086	splice site	probably null
R4694:Zfp946	UTSW	17	22455711	missense	probably benign	0.16
R4924:Zfp946	UTSW	17	22455521	missense	probably damaging	1.00
R4939:Zfp946	UTSW	17	22455437	missense	probably damaging	1.00
R5020:Zfp946	UTSW	17	22455603	missense	probably benign	0.03
R5248:Zfp946	UTSW	17	22454466	missense	probably benign	0.12
R5547:Zfp946	UTSW	17	22454892	missense	probably benign	0.00
R5551:Zfp946	UTSW	17	22455384	missense	probably damaging	1.00
R5573:Zfp946	UTSW	17	22454695	nonsense	probably null
R6048:Zfp946	UTSW	17	22454840	missense	probably benign	0.03
R6080:Zfp946	UTSW	17	22455109	missense	probably benign	0.00
R6198:Zfp946	UTSW	17	22454915	missense	probably damaging	1.00
R6332:Zfp946	UTSW	17	22454538	missense	probably damaging	1.00
R6766:Zfp946	UTSW	17	22455771	missense	probably benign	0.01
R7132:Zfp946	UTSW	17	22454663	missense	probably benign	0.41
R7248:Zfp946	UTSW	17	22453508	nonsense	probably null
R7695:Zfp946	UTSW	17	22455021	missense	probably benign	0.05
R8113:Zfp946	UTSW	17	22455500	missense	probably damaging	1.00
R9380:Zfp946	UTSW	17	22454699	missense	probably benign	0.06
R9408:Zfp946	UTSW	17	22454588	missense	possibly damaging	0.83
X0065:Zfp946	UTSW	17	22455513	missense	probably benign	0.05

Posted On

2014-05-07