Mutagenetix > Incidental Mutation

Incidental Mutation 'R8033:Zfp994'

618103

Institutional Source

Beutler Lab

Gene Symbol

Zfp994

Ensembl Gene

ENSMUSG00000096433

Gene Name

zinc finger protein 994

Synonyms

Gm4944

MMRRC Submission

067470-MU

Accession Numbers

Essential gene?

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

Stock #

R8033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22416246-22444597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22419665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 428 (I428N)

Ref Sequence

ENSEMBL: ENSMUSP00000136105 (fasta)

Gene Model

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

AlphaFold

J3QM38

Predicted Effect

probably damaging
Transcript: ENSMUST00000179996
AA Change: I428N

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

SMART Domains

Protein: ENSMUSP00000136105
Gene: ENSMUSG00000096433
AA Change: I428N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,927,348 (GRCm39)	I1335K	probably damaging	Het
Adgrb2	A	G	4: 129,912,805 (GRCm39)	E1277G	probably benign	Het
Agbl3	A	G	6: 34,816,429 (GRCm39)	T785A	possibly damaging	Het
Ahnak	T	C	19: 8,981,074 (GRCm39)	V786A	probably benign	Het
Armc2	A	G	10: 41,884,680 (GRCm39)	I87T	possibly damaging	Het
Asap2	T	C	12: 21,274,390 (GRCm39)	S373P	probably damaging	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Chd2	A	G	7: 73,085,628 (GRCm39)	Y1669H	probably damaging	Het
Clic3	A	G	2: 25,348,617 (GRCm39)	E199G	probably benign	Het
Cpa4	G	A	6: 30,590,799 (GRCm39)	V366I	probably benign	Het
Creg2	T	C	1: 39,689,795 (GRCm39)	Y105C	probably damaging	Het
Cyp20a1	T	C	1: 60,411,750 (GRCm39)	I266T	probably benign	Het
Dido1	T	C	2: 180,316,635 (GRCm39)	D685G	probably damaging	Het
Dop1b	C	G	16: 93,566,371 (GRCm39)	R1051G	probably benign	Het
Fam114a2	A	G	11: 57,398,333 (GRCm39)	S202P	probably damaging	Het
Fance	G	T	17: 28,532,659 (GRCm39)		probably benign	Het
Farsa	T	A	8: 85,594,198 (GRCm39)	L316Q	probably benign	Het
Fcrl6	T	C	1: 172,426,748 (GRCm39)	D66G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gh	A	T	11: 106,191,381 (GRCm39)	D154E	probably benign	Het
Kmt2a	A	T	9: 44,756,767 (GRCm39)	V1160E	probably damaging	Het
Lct	T	C	1: 128,212,996 (GRCm39)	T1886A	probably benign	Het
Lrwd1	G	A	5: 136,152,079 (GRCm39)	L633F	probably damaging	Het
Mmp15	A	T	8: 96,094,590 (GRCm39)	N155Y	probably benign	Het
Msantd5f6	T	C	4: 73,321,329 (GRCm39)	N143D	probably benign	Het
Mtf2	T	G	5: 108,234,951 (GRCm39)	C125G	probably damaging	Het
Muc16	A	T	9: 18,547,902 (GRCm39)	D6130E	probably benign	Het
Or5m9b	T	A	2: 85,905,219 (GRCm39)	I45N	possibly damaging	Het
Orc1	T	A	4: 108,462,761 (GRCm39)	Y613N	probably damaging	Het
Pak1	A	G	7: 97,535,590 (GRCm39)	N227S	probably benign	Het
Pex3	G	A	10: 13,407,024 (GRCm39)	Q306*	probably null	Het
Pld1	A	T	3: 28,083,359 (GRCm39)	M160L	probably benign	Het
Plekhh1	G	A	12: 79,117,710 (GRCm39)	R902H	probably benign	Het
Prp2	A	G	6: 132,577,391 (GRCm39)	H226R	unknown	Het
Rad21	T	G	15: 51,827,628 (GRCm39)	T578P	probably damaging	Het
Sp140	G	A	1: 85,547,815 (GRCm39)	V181I	probably benign	Het
Spen	A	G	4: 141,199,057 (GRCm39)	V3190A	probably benign	Het
Spg11	A	C	2: 121,917,432 (GRCm39)	C1011W	probably damaging	Het
Syngr3	G	A	17: 24,905,579 (GRCm39)	R132*	probably null	Het
Tbc1d10c	A	G	19: 4,238,013 (GRCm39)	F254L	possibly damaging	Het
Tcea1	T	A	1: 4,962,141 (GRCm39)	I176K	probably damaging	Het
Timm50	G	A	7: 28,006,258 (GRCm39)	A281V	possibly damaging	Het
Tmem144	C	T	3: 79,732,624 (GRCm39)	R218K	probably benign	Het
Upp2	A	G	2: 58,670,071 (GRCm39)	Y259C	probably damaging	Het
Vcan	A	G	13: 89,852,479 (GRCm39)	V827A	probably benign	Het
Vps41	T	A	13: 18,994,635 (GRCm39)	W161R	possibly damaging	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
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
R9587:Zfp994	UTSW	17	22,421,764 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGGCATGAATTCTGTGATGA -3'
(R):5'- ATTCATACAGGAGAGAAGCCTTACAA -3'

Sequencing Primer
(F):5'- gatgaattctaagatggcct -3'
(R):5'- TTTCCCACAAAGGCAGTCTTAG -3'

Posted On

2020-01-23