Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Zfp984'

393100

Institutional Source

Beutler Lab

Gene Symbol

Zfp984

Ensembl Gene

ENSMUSG00000078495

Gene Name

zinc finger protein 984

Synonyms

Gm13157

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.501) question?

Stock #

R5038 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

147838431-147894245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147839903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 316 (H316L)

Ref Sequence

ENSEMBL: ENSMUSP00000114023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105734] [ENSMUST00000122309]

AlphaFold

A2A7A2

Predicted Effect

probably damaging
Transcript: ENSMUST00000105734
AA Change: H316L

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

SMART Domains

Protein: ENSMUSP00000101360
Gene: ENSMUSG00000078495
AA Change: H316L

Domain	Start	End	E-Value	Type
KRAB	13	72	5.24e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.38e-3	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.3e-4	SMART
ZnF_C2H2	490	512	1.4e-4	SMART
ZnF_C2H2	518	540	4.79e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122309
AA Change: H316L

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

SMART Domains

Protein: ENSMUSP00000114023
Gene: ENSMUSG00000078495
AA Change: H316L

Domain	Start	End	E-Value	Type
KRAB	13	72	5.24e-18	SMART
ZnF_C2H2	238	260	1.69e-3	SMART
ZnF_C2H2	266	288	1.18e-2	SMART
ZnF_C2H2	294	316	1.38e-3	SMART
ZnF_C2H2	322	344	1.58e-3	SMART
ZnF_C2H2	350	372	4.24e-4	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.58e-3	SMART
ZnF_C2H2	434	456	3.39e-3	SMART
ZnF_C2H2	462	484	1.3e-4	SMART
ZnF_C2H2	490	512	1.4e-4	SMART
ZnF_C2H2	518	540	4.79e-3	SMART

Meta Mutation Damage Score

0.8305

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,539,375 (GRCm39)		probably null	Het
Abtb2	G	T	2: 103,397,408 (GRCm39)	G113C	probably damaging	Het
Acsm5	A	G	7: 119,134,034 (GRCm39)	T272A	probably damaging	Het
Adprs	C	T	4: 126,211,102 (GRCm39)	E272K	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,518,472 (GRCm39)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,847,288 (GRCm39)	Y134H	probably damaging	Het
Bnc1	A	G	7: 81,618,462 (GRCm39)	S868P	probably damaging	Het
Camta1	T	C	4: 151,229,926 (GRCm39)	E302G	probably damaging	Het
Car1	A	G	3: 14,835,933 (GRCm39)	Y129H	probably damaging	Het
Cdh22	T	C	2: 164,984,197 (GRCm39)	T352A	probably benign	Het
Ckmt2	T	C	13: 92,009,282 (GRCm39)	E215G	probably benign	Het
Cyb5r4	T	G	9: 86,941,130 (GRCm39)		probably null	Het
Dhrs13	A	G	11: 77,923,256 (GRCm39)		probably benign	Het
Dsg1c	G	A	18: 20,397,901 (GRCm39)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,363,330 (GRCm39)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,166,388 (GRCm39)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,877,257 (GRCm39)		noncoding transcript	Het
Herc1	T	G	9: 66,383,742 (GRCm39)		probably benign	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Ifna15	T	C	4: 88,476,266 (GRCm39)	N73D	probably benign	Het
Imp4	A	T	1: 34,482,016 (GRCm39)	L45F	probably damaging	Het
Jak3	G	A	8: 72,138,702 (GRCm39)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,670,916 (GRCm39)	Y76*	probably null	Het
Map4k5	A	T	12: 69,871,388 (GRCm39)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,534,375 (GRCm39)	R372H	probably damaging	Het
Nos2	G	A	11: 78,813,140 (GRCm39)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,116,803 (GRCm39)	T2A	probably damaging	Het
Nup188	T	C	2: 30,199,232 (GRCm39)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,211,556 (GRCm39)		probably null	Het
Or5b107	T	A	19: 13,142,955 (GRCm39)	D192E	probably benign	Het
Or5b96	T	A	19: 12,867,770 (GRCm39)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,896,822 (GRCm39)	V146E	possibly damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,825,952 (GRCm39)	R37Q	probably damaging	Het
Pkn3	T	C	2: 29,975,293 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Ptpn14	T	C	1: 189,519,083 (GRCm39)	S38P	probably damaging	Het
Raf1	G	A	6: 115,597,196 (GRCm39)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,045,338 (GRCm39)	E251D	probably benign	Het
Scd1	C	T	19: 44,390,148 (GRCm39)	V207M	probably damaging	Het
Shq1	A	G	6: 100,607,954 (GRCm39)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,693,702 (GRCm39)	Y416H	probably damaging	Het
Slco1a5	T	C	6: 142,208,363 (GRCm39)	T143A	probably benign	Het
Slco1a5	C	T	6: 142,212,090 (GRCm39)	G90D	probably damaging	Het
Snx9	T	C	17: 5,937,348 (GRCm39)	V30A	probably benign	Het
Spdya	T	C	17: 71,895,561 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,162,368 (GRCm39)	N75I	probably damaging	Het
Sv2b	A	T	7: 74,807,173 (GRCm39)	M159K	probably damaging	Het
Tdh	A	T	14: 63,733,575 (GRCm39)	Y89*	probably null	Het
Tmc7	A	G	7: 118,142,588 (GRCm39)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,981,090 (GRCm39)	H104L	probably damaging	Het
Ttn	G	A	2: 76,678,984 (GRCm39)		probably benign	Het
Vmn1r113	A	G	7: 20,521,419 (GRCm39)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,188 (GRCm39)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,240,116 (GRCm39)	V550I	probably benign	Het
Zfp335	G	T	2: 164,752,564 (GRCm39)	S60*	probably null	Het
Zfp7	T	C	15: 76,776,010 (GRCm39)	M684T	probably benign	Het
Zmym2	T	A	14: 57,193,637 (GRCm39)	Y1151N	possibly damaging	Het

Other mutations in Zfp984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
IGL00469:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
IGL00550:Zfp984	APN	4	147,839,343 (GRCm39)	missense	probably benign	0.00
PIT4791001:Zfp984	UTSW	4	147,840,603 (GRCm39)	missense	probably benign	0.15
R0281:Zfp984	UTSW	4	147,839,722 (GRCm39)	missense	probably benign
R0731:Zfp984	UTSW	4	147,840,689 (GRCm39)	missense	probably damaging	1.00
R1170:Zfp984	UTSW	4	147,840,446 (GRCm39)	missense	probably benign	0.24
R1293:Zfp984	UTSW	4	147,840,398 (GRCm39)	missense	possibly damaging	0.85
R1518:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
R2041:Zfp984	UTSW	4	147,839,796 (GRCm39)	missense	probably damaging	1.00
R2360:Zfp984	UTSW	4	147,839,234 (GRCm39)	missense	possibly damaging	0.92
R5554:Zfp984	UTSW	4	147,840,362 (GRCm39)	missense	probably benign	0.00
R6254:Zfp984	UTSW	4	147,840,643 (GRCm39)	missense	possibly damaging	0.76
R6418:Zfp984	UTSW	4	147,845,703 (GRCm39)	missense	probably benign	0.00
R6527:Zfp984	UTSW	4	147,840,381 (GRCm39)	missense	probably benign	0.45
R6974:Zfp984	UTSW	4	147,845,707 (GRCm39)	start codon destroyed	possibly damaging	0.94
R7058:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
R7495:Zfp984	UTSW	4	147,839,287 (GRCm39)	missense	possibly damaging	0.94
R7843:Zfp984	UTSW	4	147,842,165 (GRCm39)	missense	probably damaging	1.00
R8462:Zfp984	UTSW	4	147,839,796 (GRCm39)	missense	probably damaging	1.00
R8520:Zfp984	UTSW	4	147,840,668 (GRCm39)	missense	probably benign	0.01
R8918:Zfp984	UTSW	4	147,840,623 (GRCm39)	missense	possibly damaging	0.88
R9387:Zfp984	UTSW	4	147,840,002 (GRCm39)	missense	probably benign
Z1176:Zfp984	UTSW	4	147,839,921 (GRCm39)	missense	probably benign	0.00
Z1177:Zfp984	UTSW	4	147,840,577 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCATTTGTAAGGGTTCTCTCCTG -3'
(R):5'- AGGAATCCACCTGCAGAAGA -3'

Sequencing Primer
(F):5'- AAGGGTTCTCTCCTGTATGAATTC -3'
(R):5'- TCCATCAGGGAATTCATGCAG -3'

Posted On

2016-06-15