Mutagenetix > Incidental Mutation

Incidental Mutation 'R7695:Zfp946'

593629

Institutional Source

Beutler Lab

Gene Symbol

Zfp946

Ensembl Gene

ENSMUSG00000071266

Gene Name

zinc finger protein 946

Synonyms

1300003B13Rik

MMRRC Submission

045758-MU

Accession Numbers

Essential gene?

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

Stock #

R7695 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22643203-22675670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22674002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 252 (T252N)

Ref Sequence

ENSEMBL: ENSMUSP00000086141 (fasta)

Gene Model

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

AlphaFold

F6VWU8

Predicted Effect

probably benign
Transcript: ENSMUST00000088763
AA Change: T252N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: T252N

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: T252N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: T252N

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: T252N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: T252N

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,415,487 (GRCm39)	V689A	possibly damaging	Het
Casp12	A	G	9: 5,353,641 (GRCm39)	E225G	probably damaging	Het
Ccdc39	A	G	3: 33,868,668 (GRCm39)	L806P	probably damaging	Het
Ccnd3	T	A	17: 47,908,421 (GRCm39)	I164N	probably damaging	Het
Cd209b	A	G	8: 3,976,005 (GRCm39)	V52A	probably benign	Het
Celsr2	G	A	3: 108,310,069 (GRCm39)	R1554W	probably damaging	Het
Cnot1	A	T	8: 96,497,260 (GRCm39)	I239N	probably benign	Het
Csmd3	A	T	15: 47,683,777 (GRCm39)	V948D		Het
Dnmt1	C	A	9: 20,825,281 (GRCm39)	G1061V	probably null	Het
Dpysl4	A	G	7: 138,666,039 (GRCm39)	M1V	probably null	Het
Elp5	T	C	11: 69,860,327 (GRCm39)	T227A	probably benign	Het
Exosc1	G	A	19: 41,916,519 (GRCm39)	H86Y	possibly damaging	Het
Foxn4	G	T	5: 114,394,648 (GRCm39)	D426E	probably damaging	Het
Gabbr2	A	G	4: 46,875,687 (GRCm39)	L145P	probably damaging	Het
Gkn3	A	G	6: 87,361,422 (GRCm39)	Y126H	probably damaging	Het
Gm16506	A	G	14: 43,962,463 (GRCm39)	F148S		Het
Gm3558	A	G	14: 19,121,623 (GRCm39)	I76T	probably benign	Het
Gm49359	A	G	13: 62,604,558 (GRCm39)	F45S	possibly damaging	Het
Gpc5	A	T	14: 115,330,026 (GRCm39)	H63L	unknown	Het
H2bl1	T	C	13: 99,120,766 (GRCm39)	T87A	probably damaging	Het
Hbs1l	A	T	10: 21,175,116 (GRCm39)	D28V	possibly damaging	Het
Ide	G	A	19: 37,306,435 (GRCm39)	H113Y		Het
Igkv3-3	A	T	6: 70,664,295 (GRCm39)	S46C	probably damaging	Het
Igsf10	A	T	3: 59,233,612 (GRCm39)	V1707D	probably damaging	Het
Kcna5	A	T	6: 126,511,174 (GRCm39)	V318E	probably damaging	Het
Kdm3b	T	C	18: 34,927,612 (GRCm39)	F158S	possibly damaging	Het
Lrrc14b	T	A	13: 74,511,297 (GRCm39)	D261V	possibly damaging	Het
Lrrc71	T	A	3: 87,646,769 (GRCm39)	I485F	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mast1	A	G	8: 85,647,557 (GRCm39)	V560A	probably damaging	Het
Mfap4	A	T	11: 61,376,545 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,650,936 (GRCm39)	I1637T	probably benign	Het
Neo1	A	T	9: 58,810,212 (GRCm39)	F1080I	possibly damaging	Het
Or1e17	T	A	11: 73,831,720 (GRCm39)	V216E	possibly damaging	Het
Or4k48	A	G	2: 111,475,970 (GRCm39)	V124A	probably damaging	Het
Or4x6	A	G	2: 89,949,207 (GRCm39)	V245A	probably benign	Het
Or51a25	T	C	7: 102,372,866 (GRCm39)	H277R	probably benign	Het
Pax2	A	G	19: 44,821,638 (GRCm39)	Y318C	probably damaging	Het
Pcnx4	A	T	12: 72,588,350 (GRCm39)	M53L	probably benign	Het
Pkd2l2	T	A	18: 34,561,298 (GRCm39)	D435E	possibly damaging	Het
Plec	G	A	15: 76,068,055 (GRCm39)	Q1117*	probably null	Het
Ppp2r2c	T	C	5: 37,104,526 (GRCm39)	L302P	probably damaging	Het
Prex2	T	C	1: 11,232,497 (GRCm39)	F855L	probably benign	Het
Reg3d	A	T	6: 78,354,119 (GRCm39)	W103R	probably benign	Het
Rnf216	A	C	5: 143,071,659 (GRCm39)	H440Q	possibly damaging	Het
Scn2a	A	G	2: 65,542,251 (GRCm39)	T785A	probably damaging	Het
Sh3pxd2a	T	A	19: 47,256,270 (GRCm39)	Y844F	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spp1	T	C	5: 104,583,009 (GRCm39)		probably benign	Het
Tacc2	T	A	7: 130,330,633 (GRCm39)	S196T	probably benign	Het
Thrap3	G	A	4: 126,073,891 (GRCm39)	S285L	probably damaging	Het
Ttn	T	A	2: 76,666,305 (GRCm39)	R11584*	probably null	Het
Ubap2	A	G	4: 41,211,740 (GRCm39)	S341P	probably damaging	Het
Upf3a	T	G	8: 13,848,279 (GRCm39)	S358R	probably benign	Het
Zdbf2	T	A	1: 63,346,529 (GRCm39)	I1636N	possibly damaging	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
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
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'- AACTGGAAACATCAGAGAACCTTG -3'
(R):5'- CAGGGTAAAGCATTTGCCAC -3'

Sequencing Primer
(F):5'- TGAGGAATGCTTCACCCAGCTATG -3'
(R):5'- GCCACATGCATTACATTTGTAAGG -3'

Posted On

2019-11-12