Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:Zfp985'

655457

Institutional Source

Beutler Lab

Gene Symbol

Zfp985

Ensembl Gene

ENSMUSG00000065999

Gene Name

zinc finger protein 985

Synonyms

Gm13154

MMRRC Submission

067840-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

R8504 (G1)

Quality Score

168.009

Status

Not validated

Chromosome

Chromosomal Location

147637734-147669655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147667883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 250 (K250N)

Ref Sequence

ENSEMBL: ENSMUSP00000080438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081742] [ENSMUST00000139784] [ENSMUST00000143885]

AlphaFold

A2A7A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081742
AA Change: K250N

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080438
Gene: ENSMUSG00000065999
AA Change: K250N

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	SMART
ZnF_C2H2	238	260	8.34e-3	SMART
ZnF_C2H2	266	288	1.47e-3	SMART
ZnF_C2H2	294	316	2.36e-2	SMART
ZnF_C2H2	322	344	8.34e-3	SMART
ZnF_C2H2	350	372	7.67e-2	SMART
ZnF_C2H2	378	400	8.6e-5	SMART
ZnF_C2H2	406	428	8.6e-5	SMART
ZnF_C2H2	434	456	7.9e-4	SMART
ZnF_C2H2	462	484	1.95e-3	SMART
ZnF_C2H2	490	512	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139784

SMART Domains

Protein: ENSMUSP00000123296
Gene: ENSMUSG00000065999

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143885

SMART Domains

Protein: ENSMUSP00000121177
Gene: ENSMUSG00000065999

Domain	Start	End	E-Value	Type
KRAB	13	72	4.36e-15	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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,922,983 (GRCm39)	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,173,491 (GRCm39)	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,757,840 (GRCm39)	E758G	probably benign	Het
Akap3	T	A	6: 126,841,493 (GRCm39)	D37E	probably damaging	Het
Ano5	A	T	7: 51,222,776 (GRCm39)	H445L	probably benign	Het
Ap4b1	T	A	3: 103,720,116 (GRCm39)	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,470,354 (GRCm39)	K135E	probably benign	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,885,366 (GRCm39)	Y1119*	probably null	Het
Birc6	T	A	17: 74,959,000 (GRCm39)	M3839K	probably damaging	Het
Cacna1a	A	G	8: 85,365,370 (GRCm39)	H2171R	probably benign	Het
Ccdc90b	T	A	7: 92,224,545 (GRCm39)	D183E	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh23	T	A	10: 60,274,618 (GRCm39)	T491S	probably benign	Het
Cercam	T	C	2: 29,771,829 (GRCm39)	S550P	possibly damaging	Het
Chd9	A	G	8: 91,723,472 (GRCm39)	H1019R	unknown	Het
Coil	A	T	11: 88,871,980 (GRCm39)	K114*	probably null	Het
Csmd2	A	C	4: 128,440,483 (GRCm39)	T3183P		Het
Cul9	T	C	17: 46,814,506 (GRCm39)	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,587,186 (GRCm39)	Q199*	probably null	Het
Elp3	A	T	14: 65,785,360 (GRCm39)	S499R	probably benign	Het
Exoc8	T	G	8: 125,622,709 (GRCm39)	I553L	probably benign	Het
Fyco1	C	A	9: 123,659,142 (GRCm39)	V345L	probably benign	Het
Galr3	T	A	15: 78,927,279 (GRCm39)	V240E	probably damaging	Het
Gm21190	A	G	5: 15,730,862 (GRCm39)	S165P	probably benign	Het
Gnal	T	A	18: 67,350,255 (GRCm39)	Y372*	probably null	Het
H2-DMa	A	G	17: 34,357,416 (GRCm39)	N230D	probably damaging	Het
Hk2	T	C	6: 82,721,847 (GRCm39)	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,544 (GRCm39)	I16F	possibly damaging	Het
Ivl	T	C	3: 92,480,078 (GRCm39)		probably benign	Het
Klhl8	G	A	5: 104,015,814 (GRCm39)	T434M	probably benign	Het
Lct	A	T	1: 128,215,306 (GRCm39)	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,810,065 (GRCm39)	Y132F	probably damaging	Het
M6pr	T	C	6: 122,293,029 (GRCm39)	V203A	possibly damaging	Het
Map9	T	C	3: 82,284,476 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,360,892 (GRCm39)	D1401V	probably damaging	Het
Myh7	A	G	14: 55,227,786 (GRCm39)	S291P	probably damaging	Het
Nynrin	G	C	14: 56,107,703 (GRCm39)	V937L	probably benign	Het
Or5d44	C	T	2: 88,141,825 (GRCm39)	G105D	probably benign	Het
Or5m3	T	G	2: 85,838,149 (GRCm39)	F10V	probably damaging	Het
Pank2	A	G	2: 131,135,320 (GRCm39)	N386S	probably benign	Het
Phkg2	G	T	7: 127,181,528 (GRCm39)	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,590,432 (GRCm39)	V1772I	probably benign	Het
Plch2	G	T	4: 155,068,852 (GRCm39)	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,369,764 (GRCm39)	I77N	probably damaging	Het
Ptprb	A	G	10: 116,176,936 (GRCm39)	T954A	probably benign	Het
Ranbp3	T	C	17: 57,015,273 (GRCm39)	V325A	probably damaging	Het
Rgs10	A	T	7: 128,019,793 (GRCm39)	S16T	probably benign	Het
Scaper	A	T	9: 55,771,722 (GRCm39)	V398E	probably benign	Het
Selenot	A	G	3: 58,492,698 (GRCm39)	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,439,092 (GRCm39)	C173S	probably benign	Het
Slc13a3	G	T	2: 165,275,999 (GRCm39)	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,701,171 (GRCm39)	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,291,390 (GRCm39)	L256R	probably damaging	Het
Tektl1	T	C	10: 78,585,038 (GRCm39)	D266G	probably benign	Het
Tektl1	T	C	10: 78,586,463 (GRCm39)	D196G	probably damaging	Het
Top2a	C	T	11: 98,905,567 (GRCm39)	V337I	probably benign	Het
Tut4	T	C	4: 108,388,139 (GRCm39)	L1160P	probably damaging	Het
Unc13a	A	C	8: 72,098,405 (GRCm39)	F1127V	possibly damaging	Het
Wdr25	C	T	12: 108,992,393 (GRCm39)	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,664,719 (GRCm39)	L526R	probably damaging	Het
Zeb1	C	A	18: 5,705,127 (GRCm39)	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,303,243 (GRCm39)	S1580R	probably benign	Het
Zfhx3	A	G	8: 109,583,549 (GRCm39)	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,179,492 (GRCm39)	V1038L	probably benign	Het
Zfp759	T	A	13: 67,286,947 (GRCm39)	V166E	probably benign	Het

Other mutations in Zfp985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0098:Zfp985	UTSW	4	147,661,566 (GRCm39)	missense	probably damaging	0.97
R0324:Zfp985	UTSW	4	147,667,314 (GRCm39)	missense	probably benign	0.00
R1307:Zfp985	UTSW	4	147,667,704 (GRCm39)	missense	probably benign
R1594:Zfp985	UTSW	4	147,667,537 (GRCm39)	missense	probably benign	0.05
R1657:Zfp985	UTSW	4	147,668,567 (GRCm39)	missense	probably benign	0.01
R1667:Zfp985	UTSW	4	147,668,407 (GRCm39)	missense	possibly damaging	0.84
R1761:Zfp985	UTSW	4	147,668,502 (GRCm39)	missense	probably benign	0.00
R1858:Zfp985	UTSW	4	147,667,315 (GRCm39)	missense	probably benign	0.29
R2509:Zfp985	UTSW	4	147,667,443 (GRCm39)	missense	possibly damaging	0.75
R2510:Zfp985	UTSW	4	147,667,443 (GRCm39)	missense	possibly damaging	0.75
R2847:Zfp985	UTSW	4	147,667,468 (GRCm39)	nonsense	probably null
R2848:Zfp985	UTSW	4	147,667,468 (GRCm39)	nonsense	probably null
R4245:Zfp985	UTSW	4	147,667,396 (GRCm39)	missense	probably damaging	0.96
R4260:Zfp985	UTSW	4	147,668,029 (GRCm39)	missense	probably damaging	1.00
R4434:Zfp985	UTSW	4	147,668,368 (GRCm39)	missense	probably benign	0.37
R4480:Zfp985	UTSW	4	147,668,536 (GRCm39)	missense	probably benign	0.07
R4512:Zfp985	UTSW	4	147,668,020 (GRCm39)	missense	probably damaging	1.00
R4514:Zfp985	UTSW	4	147,668,020 (GRCm39)	missense	probably damaging	1.00
R4528:Zfp985	UTSW	4	147,667,347 (GRCm39)	missense	possibly damaging	0.49
R4836:Zfp985	UTSW	4	147,668,612 (GRCm39)	missense	probably damaging	0.97
R4884:Zfp985	UTSW	4	147,667,801 (GRCm39)	missense	probably benign	0.04
R5054:Zfp985	UTSW	4	147,667,438 (GRCm39)	missense	probably damaging	0.98
R5106:Zfp985	UTSW	4	147,668,612 (GRCm39)	missense	probably damaging	0.97
R5205:Zfp985	UTSW	4	147,667,368 (GRCm39)	missense	probably damaging	1.00
R5266:Zfp985	UTSW	4	147,667,289 (GRCm39)	critical splice acceptor site	probably null
R5468:Zfp985	UTSW	4	147,667,702 (GRCm39)	missense	probably benign
R5533:Zfp985	UTSW	4	147,667,440 (GRCm39)	nonsense	probably null
R6282:Zfp985	UTSW	4	147,667,805 (GRCm39)	missense	probably benign	0.00
R6303:Zfp985	UTSW	4	147,668,232 (GRCm39)	missense	probably benign	0.01
R6609:Zfp985	UTSW	4	147,668,124 (GRCm39)	missense	probably damaging	1.00
R6609:Zfp985	UTSW	4	147,667,578 (GRCm39)	missense	probably benign
R6722:Zfp985	UTSW	4	147,667,528 (GRCm39)	missense	probably benign	0.26
R6858:Zfp985	UTSW	4	147,667,764 (GRCm39)	nonsense	probably null
R7064:Zfp985	UTSW	4	147,667,573 (GRCm39)	missense	probably benign	0.20
R7216:Zfp985	UTSW	4	147,667,913 (GRCm39)	missense	probably damaging	1.00
R7471:Zfp985	UTSW	4	147,667,388 (GRCm39)	missense	possibly damaging	0.75
R7583:Zfp985	UTSW	4	147,667,946 (GRCm39)	nonsense	probably null
R7685:Zfp985	UTSW	4	147,667,331 (GRCm39)	missense	probably benign	0.00
R8242:Zfp985	UTSW	4	147,668,639 (GRCm39)	missense	possibly damaging	0.52
R8780:Zfp985	UTSW	4	147,668,412 (GRCm39)	missense	possibly damaging	0.79
R8785:Zfp985	UTSW	4	147,668,080 (GRCm39)	missense	probably damaging	1.00
R9485:Zfp985	UTSW	4	147,668,280 (GRCm39)	missense	probably damaging	1.00
R9513:Zfp985	UTSW	4	147,667,999 (GRCm39)	missense	probably damaging	1.00
R9631:Zfp985	UTSW	4	147,665,742 (GRCm39)	missense	probably damaging	1.00
R9722:Zfp985	UTSW	4	147,667,618 (GRCm39)	missense	possibly damaging	0.63
R9786:Zfp985	UTSW	4	147,668,047 (GRCm39)	missense	probably benign
X0050:Zfp985	UTSW	4	147,667,728 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTCTCAATCAAGGAATCCACATG -3'
(R):5'- CTCCTGTATGAATTATCTGATGAGC -3'

Sequencing Primer
(F):5'- TGGAGTGAACCCTTACAAATGC -3'
(R):5'- TGAGGTTTCTCTCCTGTATG -3'

Posted On

2020-10-20