Mutagenetix > Incidental Mutation

Incidental Mutation 'R6254:Zfp984'

505966

Institutional Source

Beutler Lab

Gene Symbol

Zfp984

Ensembl Gene

ENSMUSG00000078495

Gene Name

zinc finger protein 984

Synonyms

Gm13157

MMRRC Submission

044371-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

R6254 (G1)

Quality Score

113.008

Status

Validated

Chromosome

Chromosomal Location

147838431-147894245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 147840643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 69 (S69R)

Ref Sequence

ENSEMBL: ENSMUSP00000114023 (fasta)

Gene Model

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

AlphaFold

A2A7A2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105734
AA Change: S69R

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101360
Gene: ENSMUSG00000078495
AA Change: S69R

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

possibly damaging
Transcript: ENSMUST00000122309
AA Change: S69R

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114023
Gene: ENSMUSG00000078495
AA Change: S69R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	T	12: 113,453,190 (GRCm39)	L2F	probably damaging	Het
Ank2	T	A	3: 126,735,453 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,488,981 (GRCm39)	D369A	probably damaging	Het
App	T	C	16: 84,775,065 (GRCm39)	E599G	probably damaging	Het
Asphd1	C	T	7: 126,548,040 (GRCm39)	V88I	probably benign	Het
Atad5	A	T	11: 80,018,215 (GRCm39)	I1389F	probably damaging	Het
Blm	T	C	7: 80,130,090 (GRCm39)	N950S	probably benign	Het
Bsn	A	T	9: 107,989,065 (GRCm39)	M2229K	probably damaging	Het
Cacna2d2	A	G	9: 107,386,415 (GRCm39)	M181V	probably benign	Het
Cadps2	T	A	6: 23,329,162 (GRCm39)		probably null	Het
Cdh1	T	A	8: 107,390,430 (GRCm39)	V590D	probably damaging	Het
Cdk5rap2	G	A	4: 70,282,269 (GRCm39)	T160M	probably damaging	Het
Cfap97d2	A	G	8: 13,756,043 (GRCm39)	D26G	possibly damaging	Het
Cfhr4	A	G	1: 139,682,128 (GRCm39)	I156T	probably damaging	Het
Chrna5	A	G	9: 54,913,740 (GRCm39)	M325V	probably benign	Het
Clca3a2	A	G	3: 144,507,895 (GRCm39)	I116T	probably benign	Het
Cyp2c23	T	C	19: 43,993,902 (GRCm39)	K488R	probably benign	Het
Edil3	T	A	13: 89,467,848 (GRCm39)	I451N	probably damaging	Het
Exph5	T	G	9: 53,284,010 (GRCm39)	S364A	possibly damaging	Het
Fam98c	A	G	7: 28,853,942 (GRCm39)	S209P	probably damaging	Het
Fat3	G	A	9: 15,907,441 (GRCm39)	L2854F	probably benign	Het
Fbxo38	T	C	18: 62,638,571 (GRCm39)		probably null	Het
Fermt2	T	C	14: 45,713,516 (GRCm39)	D205G	probably damaging	Het
Fmnl1	G	A	11: 103,087,141 (GRCm39)		probably benign	Het
Fn3k	A	G	11: 121,325,894 (GRCm39)	E27G	probably damaging	Het
Foxj2	A	G	6: 122,815,098 (GRCm39)	H378R	probably damaging	Het
Fubp1	A	G	3: 151,938,045 (GRCm39)	K140E	possibly damaging	Het
Gm7694	A	T	1: 170,130,103 (GRCm39)	C98*	probably null	Het
Golgb1	T	C	16: 36,734,340 (GRCm39)	S1196P	probably damaging	Het
Gpm6a	G	A	8: 55,500,431 (GRCm39)		probably null	Het
Hltf	T	A	3: 20,117,993 (GRCm39)	N80K	possibly damaging	Het
Il1rap	G	A	16: 26,514,020 (GRCm39)	R251H	probably benign	Het
Ipo7	T	A	7: 109,648,267 (GRCm39)	D688E	probably benign	Het
Itgal	T	A	7: 126,924,375 (GRCm39)	N897K	probably damaging	Het
Itsn2	A	G	12: 4,674,982 (GRCm39)		probably null	Het
Kcnk13	A	G	12: 99,931,631 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,147,203 (GRCm39)	L248P	probably damaging	Het
Kmt2c	T	C	5: 25,554,872 (GRCm39)	E1254G	possibly damaging	Het
Ldah	G	A	12: 8,325,912 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,527,371 (GRCm39)	D406V	possibly damaging	Het
Lratd2	A	G	15: 60,695,650 (GRCm39)	I32T	probably damaging	Het
Lrriq1	A	T	10: 103,051,312 (GRCm39)	V480E	probably benign	Het
Mtcl1	C	T	17: 66,665,129 (GRCm39)	R1142H	probably benign	Het
Mtmr3	G	A	11: 4,447,381 (GRCm39)	Q360*	probably null	Het
Muc6	T	C	7: 141,237,380 (GRCm39)	N252S	probably benign	Het
Naa20	T	C	2: 145,745,240 (GRCm39)	L4P	probably damaging	Het
Neb	T	A	2: 52,112,973 (GRCm39)	I4274L	probably benign	Het
Noa1	A	T	5: 77,457,516 (GRCm39)	F130I	probably benign	Het
Nrg4	G	T	9: 55,143,796 (GRCm39)	H87N	possibly damaging	Het
Or51ai2	T	A	7: 103,586,741 (GRCm39)	H51Q	probably benign	Het
Or5m12	T	A	2: 85,734,849 (GRCm39)	Y183F	probably damaging	Het
P3h3	C	T	6: 124,822,564 (GRCm39)	E536K	probably damaging	Het
Pcdhb11	T	C	18: 37,554,771 (GRCm39)	S34P	probably damaging	Het
Pik3r1	T	C	13: 101,825,914 (GRCm39)	T71A	possibly damaging	Het
Plaur	T	A	7: 24,166,225 (GRCm39)	C99S	possibly damaging	Het
Plekha5	G	A	6: 140,532,162 (GRCm39)	G501E	probably damaging	Het
Plxnd1	C	T	6: 115,954,921 (GRCm39)	V614M	probably benign	Het
Ppp2r3d	T	C	9: 101,025,786 (GRCm39)	D307G	possibly damaging	Het
Prl3d3	C	T	13: 27,341,453 (GRCm39)	S28F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptk7	C	A	17: 46,883,568 (GRCm39)	Q832H	probably damaging	Het
Qser1	T	C	2: 104,620,435 (GRCm39)	S126G	probably benign	Het
Rab3ip	A	T	10: 116,751,772 (GRCm39)	C332S	probably damaging	Het
Raly	C	A	2: 154,699,286 (GRCm39)	T30K	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rps6ka1	C	T	4: 133,594,535 (GRCm39)	M159I	possibly damaging	Het
Rufy3	C	T	5: 88,732,168 (GRCm39)	T57I	probably benign	Het
Samd4	A	G	14: 47,254,088 (GRCm39)	D184G	probably damaging	Het
Slc35f3	T	C	8: 127,047,833 (GRCm39)	C58R	possibly damaging	Het
Smarca4	T	C	9: 21,611,173 (GRCm39)	I1467T	probably damaging	Het
Spag17	T	G	3: 99,972,901 (GRCm39)	I1371S	probably benign	Het
Sptan1	T	C	2: 29,897,561 (GRCm39)	L1228P	possibly damaging	Het
Stk31	C	T	6: 49,398,631 (GRCm39)	A344V	probably benign	Het
Supt16	A	G	14: 52,408,291 (GRCm39)	W885R	probably damaging	Het
Tdrd9	T	A	12: 111,992,334 (GRCm39)		probably null	Het
Tmod1	A	G	4: 46,078,469 (GRCm39)		probably null	Het
Tnfsf13	A	C	11: 69,575,309 (GRCm39)		probably null	Het
Trim75	C	A	8: 65,436,094 (GRCm39)	E119*	probably null	Het
Wdr6	T	C	9: 108,452,110 (GRCm39)	Y591C	probably damaging	Het
Wdr86	C	T	5: 24,923,281 (GRCm39)	R137H	probably benign	Het
Ythdf1	T	A	2: 180,552,943 (GRCm39)	Y424F	probably damaging	Het
Zyg11a	A	G	4: 108,038,991 (GRCm39)	F743L	probably 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
R5038:Zfp984	UTSW	4	147,839,903 (GRCm39)	missense	probably damaging	1.00
R5554:Zfp984	UTSW	4	147,840,362 (GRCm39)	missense	probably benign	0.00
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'- CAAACTTCTTTAGTGTTCCTGGGC -3'
(R):5'- GCAGGCTATTATCATTTTCAATCAC -3'

Sequencing Primer
(F):5'- AGTGTTCCTGGGCTTAAGTC -3'
(R):5'- AGAGAGAGAGAGAGAGAAACCTC -3'

Posted On

2018-02-28