Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Zfp994'

722857

Institutional Source

Beutler Lab

Gene Symbol

Zfp994

Ensembl Gene

ENSMUSG00000096433

Gene Name

zinc finger protein 994

Synonyms

Gm4944

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R9587 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22416246-22444597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22421764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 17 (D17G)

Ref Sequence

ENSEMBL: ENSMUSP00000136105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179996]

AlphaFold

J3QM38

Predicted Effect

probably damaging
Transcript: ENSMUST00000179996
AA Change: D17G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: D17G

Domain	Start	End	E-Value	Type
KRAB	13	73	3.33e-20	SMART
ZnF_C2H2	183	205	8.09e-1	SMART
ZnF_C2H2	211	233	1.84e-4	SMART
ZnF_C2H2	239	261	2.99e-4	SMART
ZnF_C2H2	267	289	1.04e-3	SMART
ZnF_C2H2	295	317	2.61e-4	SMART
ZnF_C2H2	323	345	4.3e-5	SMART
ZnF_C2H2	351	373	6.78e-3	SMART
ZnF_C2H2	379	401	1.12e-3	SMART
ZnF_C2H2	407	429	5.5e-3	SMART
ZnF_C2H2	435	457	1.3e-4	SMART
ZnF_C2H2	463	485	1.67e-2	SMART
ZnF_C2H2	491	513	1.47e-3	SMART
ZnF_C2H2	519	541	2.4e-3	SMART
ZnF_C2H2	547	569	7.67e-2	SMART
ZnF_C2H2	575	597	8.6e-5	SMART
ZnF_C2H2	603	625	8.02e-5	SMART
ZnF_C2H2	631	653	9.22e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,119,149 (GRCm39)	L3552Q	probably damaging	Het
Atat1	T	C	17: 36,209,182 (GRCm39)	E353G	probably benign	Het
Banf2	A	G	2: 143,907,452 (GRCm39)	K42R	probably damaging	Het
Cabp7	T	A	11: 4,688,865 (GRCm39)	M202L	probably damaging	Het
Cage1	T	C	13: 38,207,233 (GRCm39)	E204G	probably damaging	Het
Caprin2	A	G	6: 148,770,500 (GRCm39)	V498A	probably benign	Het
Cfap161	A	G	7: 83,440,878 (GRCm39)	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,335,387 (GRCm39)	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dnah9	T	C	11: 65,999,217 (GRCm39)	Q974R	probably null	Het
Eps8l3	G	A	3: 107,798,683 (GRCm39)	R523Q	probably benign	Het
Ext1	T	C	15: 52,955,808 (GRCm39)	I430V	possibly damaging	Het
Gga3	T	C	11: 115,481,717 (GRCm39)	K202R	probably damaging	Het
Gm11567	T	C	11: 99,770,136 (GRCm39)	W25R	unknown	Het
Gpr3	G	A	4: 132,937,988 (GRCm39)	A228V	probably damaging	Het
Krt10	T	C	11: 99,277,420 (GRCm39)	D426G	possibly damaging	Het
Krt24	T	A	11: 99,174,453 (GRCm39)	I205F	probably damaging	Het
Krt33a	T	C	11: 99,906,733 (GRCm39)	N81D	probably damaging	Het
Mapkbp1	T	C	2: 119,847,277 (GRCm39)	S505P	possibly damaging	Het
Matr3	A	G	18: 35,717,876 (GRCm39)	D696G	probably null	Het
Mov10	C	T	3: 104,711,899 (GRCm39)	G158S	probably benign	Het
Myh1	T	A	11: 67,102,196 (GRCm39)	M829K	probably benign	Het
Ncam2	T	C	16: 81,262,501 (GRCm39)	V318A	probably benign	Het
Ndufv3	A	G	17: 31,747,106 (GRCm39)	E332G	probably benign	Het
Ngdn	C	T	14: 55,254,578 (GRCm39)	T43M	probably benign	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Or2y17	C	T	11: 49,232,007 (GRCm39)	S216F	probably benign	Het
Or3a10	G	A	11: 73,935,360 (GRCm39)	H247Y	probably damaging	Het
Or5w17	A	T	2: 87,584,184 (GRCm39)	M51K	possibly damaging	Het
Or8u8	A	T	2: 86,011,564 (GRCm39)	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,567,601 (GRCm39)	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,663,679 (GRCm39)	D319G	probably damaging	Het
Sfswap	G	A	5: 129,618,427 (GRCm39)	D454N	probably benign	Het
Slc38a6	G	T	12: 73,388,513 (GRCm39)	K242N	probably benign	Het
Tmigd3	A	G	3: 105,824,088 (GRCm39)	D19G	probably damaging	Het
Trim36	T	C	18: 46,308,722 (GRCm39)	E380G	probably benign	Het
Ttn	T	A	2: 76,624,976 (GRCm39)	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,239,322 (GRCm39)	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,214,936 (GRCm39)	K306N	possibly damaging	Het
Wdfy4	A	T	14: 32,769,230 (GRCm39)	Y2232*	probably null	Het
Wdr53	A	G	16: 32,075,830 (GRCm39)	D345G	probably damaging	Het
Zfp26	G	A	9: 20,348,213 (GRCm39)	R784C	probably damaging	Het
Zfp58	A	T	13: 67,639,823 (GRCm39)	C223S	probably damaging	Het
Zfp618	A	G	4: 63,051,916 (GRCm39)	H899R		Het
Zfp963	A	G	8: 70,195,692 (GRCm39)	Y254H	probably benign	Het

Other mutations in Zfp994

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Zfp994	APN	17	22,421,649 (GRCm39)	splice site	probably benign
IGL03065:Zfp994	APN	17	22,421,661 (GRCm39)	missense	probably damaging	0.98
dreamer	UTSW	17	22,424,306 (GRCm39)	missense	probably damaging	1.00
fanciful	UTSW	17	22,420,081 (GRCm39)	missense	probably damaging	1.00
R0361:Zfp994	UTSW	17	22,419,091 (GRCm39)	missense	probably benign	0.01
R0498:Zfp994	UTSW	17	22,419,882 (GRCm39)	missense	probably damaging	0.99
R0567:Zfp994	UTSW	17	22,419,449 (GRCm39)	missense	possibly damaging	0.82
R1075:Zfp994	UTSW	17	22,419,926 (GRCm39)	missense	probably damaging	1.00
R1561:Zfp994	UTSW	17	22,420,206 (GRCm39)	missense	probably damaging	1.00
R2117:Zfp994	UTSW	17	22,419,962 (GRCm39)	missense	probably damaging	1.00
R2313:Zfp994	UTSW	17	22,420,266 (GRCm39)	missense	probably damaging	1.00
R4486:Zfp994	UTSW	17	22,420,541 (GRCm39)	missense	probably damaging	1.00
R4906:Zfp994	UTSW	17	22,419,448 (GRCm39)	nonsense	probably null
R4924:Zfp994	UTSW	17	22,419,738 (GRCm39)	missense	probably damaging	0.98
R5394:Zfp994	UTSW	17	22,419,506 (GRCm39)	missense	probably damaging	1.00
R5560:Zfp994	UTSW	17	22,420,694 (GRCm39)	missense	possibly damaging	0.62
R5746:Zfp994	UTSW	17	22,420,254 (GRCm39)	missense	probably damaging	0.99
R6275:Zfp994	UTSW	17	22,418,972 (GRCm39)	nonsense	probably null
R6459:Zfp994	UTSW	17	22,419,527 (GRCm39)	missense	possibly damaging	0.83
R6668:Zfp994	UTSW	17	22,420,081 (GRCm39)	missense	probably damaging	1.00
R7343:Zfp994	UTSW	17	22,419,049 (GRCm39)	missense	probably benign	0.12
R7625:Zfp994	UTSW	17	22,420,736 (GRCm39)	missense	possibly damaging	0.85
R7709:Zfp994	UTSW	17	22,419,406 (GRCm39)	missense	probably benign	0.00
R7725:Zfp994	UTSW	17	22,419,091 (GRCm39)	missense	probably benign	0.01
R7756:Zfp994	UTSW	17	22,419,828 (GRCm39)	missense	possibly damaging	0.89
R7758:Zfp994	UTSW	17	22,419,828 (GRCm39)	missense	possibly damaging	0.89
R7959:Zfp994	UTSW	17	22,421,761 (GRCm39)	missense	probably damaging	0.99
R8033:Zfp994	UTSW	17	22,419,665 (GRCm39)	missense	probably damaging	1.00
R8199:Zfp994	UTSW	17	22,419,204 (GRCm39)	nonsense	probably null
R8365:Zfp994	UTSW	17	22,420,227 (GRCm39)	missense	probably damaging	1.00
R8770:Zfp994	UTSW	17	22,419,980 (GRCm39)	missense	probably damaging	1.00
R8893:Zfp994	UTSW	17	22,424,306 (GRCm39)	missense	probably damaging	1.00
R9130:Zfp994	UTSW	17	22,418,981 (GRCm39)	missense	unknown
R9530:Zfp994	UTSW	17	22,420,514 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGACTCTTTAGATATGTCAGAG -3'
(R):5'- CCTATGCATTGTCTCATAAAGCAAC -3'

Sequencing Primer
(F):5'- GAGTGTGTATATAAGCAAATAGGAGG -3'
(R):5'- GCAACAATGCTTAACTTCTGA -3'

Posted On

2022-08-09