Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Zfp946'

531946

Institutional Source

Beutler Lab

Gene Symbol

Zfp946

Ensembl Gene

ENSMUSG00000071266

Gene Name

zinc finger protein 946

Synonyms

1300003B13Rik

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

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

Stock #

R6766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22643203-22675670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22674752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 502 (C502Y)

Ref Sequence

ENSEMBL: ENSMUSP00000132940 (fasta)

Gene Model

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

AlphaFold

F6VWU8

Predicted Effect

probably benign
Transcript: ENSMUST00000088763
AA Change: C502Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: C502Y

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 benign
Transcript: ENSMUST00000120222
AA Change: C502Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: C502Y

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 benign
Transcript: ENSMUST00000167740
AA Change: C502Y

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: C502Y

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

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Ccdc68	A	G	18: 70,099,861 (GRCm39)	N290D	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,358,522 (GRCm39)		probably null	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Fam83e	A	G	7: 45,376,070 (GRCm39)	D261G	probably damaging	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Smo	T	A	6: 29,736,044 (GRCm39)	L12Q	unknown	Homo
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syn2	T	A	6: 115,216,362 (GRCm39)	F191L	probably damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	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
R4125:Zfp946	UTSW	17	22,673,548 (GRCm39)	nonsense	probably null
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
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'- TTCATGAGAGAATTCACACAGGAG -3'
(R):5'- TATGAGATTCGGGAAAAGGCCTTC -3'

Sequencing Primer
(F):5'- TCATCAGAGTGTTCATATAGGAGAG -3'
(R):5'- GGGAAAAGGCCTTCTCTCACATTTG -3'

Posted On

2018-08-29