Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Zfp708'

529555

Institutional Source

Beutler Lab

Gene Symbol

Zfp708

Ensembl Gene

ENSMUSG00000058883

Gene Name

zinc finger protein 708

Synonyms

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67217463-67246040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67219496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 76 (Y76C)

Ref Sequence

ENSEMBL: ENSMUSP00000139928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109742] [ENSMUST00000109743] [ENSMUST00000186303] [ENSMUST00000190566]

AlphaFold

F8VPP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109742
AA Change: Y109C

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105364
Gene: ENSMUSG00000058883
AA Change: Y109C

Domain	Start	End	E-Value	Type
KRAB	5	65	3.75e-28	SMART
ZnF_C2H2	81	103	1.12e-3	SMART
ZnF_C2H2	109	131	5.14e-3	SMART
ZnF_C2H2	137	159	1.1e-2	SMART
ZnF_C2H2	165	187	6.78e-3	SMART
ZnF_C2H2	193	215	1.47e-3	SMART
ZnF_C2H2	221	243	7.78e-3	SMART
ZnF_C2H2	249	271	1.95e-3	SMART
ZnF_C2H2	277	299	5.21e-4	SMART
ZnF_C2H2	305	327	7.9e-4	SMART
ZnF_C2H2	333	355	8.34e-3	SMART
ZnF_C2H2	361	383	1.3e-4	SMART
ZnF_C2H2	389	411	4.87e-4	SMART
ZnF_C2H2	417	439	5.14e-3	SMART
ZnF_C2H2	445	467	1.2e-3	SMART
ZnF_C2H2	473	495	1.72e-4	SMART
ZnF_C2H2	501	523	1.6e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109743
AA Change: Y121C

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105365
Gene: ENSMUSG00000058883
AA Change: Y121C

Domain	Start	End	E-Value	Type
KRAB	17	77	3.75e-28	SMART
ZnF_C2H2	93	115	1.12e-3	SMART
ZnF_C2H2	121	143	5.14e-3	SMART
ZnF_C2H2	149	171	1.1e-2	SMART
ZnF_C2H2	177	199	6.78e-3	SMART
ZnF_C2H2	205	227	1.47e-3	SMART
ZnF_C2H2	233	255	7.78e-3	SMART
ZnF_C2H2	261	283	1.95e-3	SMART
ZnF_C2H2	289	311	5.21e-4	SMART
ZnF_C2H2	317	339	7.9e-4	SMART
ZnF_C2H2	345	367	8.34e-3	SMART
ZnF_C2H2	373	395	1.3e-4	SMART
ZnF_C2H2	401	423	4.87e-4	SMART
ZnF_C2H2	429	451	5.14e-3	SMART
ZnF_C2H2	457	479	1.2e-3	SMART
ZnF_C2H2	485	507	1.72e-4	SMART
ZnF_C2H2	513	535	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185954

Predicted Effect

probably benign
Transcript: ENSMUST00000186303

SMART Domains

Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235

Domain	Start	End	E-Value	Type
KRAB	1	32	9.7e-3	SMART
ZnF_C2H2	47	69	1.8e-6	SMART
ZnF_C2H2	75	97	6.7e-5	SMART
ZnF_C2H2	103	125	7.6e-6	SMART
ZnF_C2H2	131	153	7.6e-6	SMART
ZnF_C2H2	159	181	1.4e-7	SMART
ZnF_C2H2	187	209	7.6e-6	SMART
ZnF_C2H2	215	237	5.5e-5	SMART
ZnF_C2H2	243	265	8.9e-7	SMART
ZnF_C2H2	271	293	2e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190566
AA Change: Y76C

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

SMART Domains

Protein: ENSMUSP00000139928
Gene: ENSMUSG00000058883
AA Change: Y76C

Domain	Start	End	E-Value	Type
KRAB	1	32	1.6e-3	SMART
ZnF_C2H2	48	70	4.7e-6	SMART
ZnF_C2H2	76	98	2.1e-5	SMART
ZnF_C2H2	104	126	4.6e-5	SMART
ZnF_C2H2	132	154	2.9e-5	SMART
ZnF_C2H2	160	182	6.3e-6	SMART
ZnF_C2H2	188	210	3.3e-5	SMART
ZnF_C2H2	216	238	8.2e-6	SMART
ZnF_C2H2	244	266	2.2e-6	SMART
ZnF_C2H2	272	294	3.4e-6	SMART
ZnF_C2H2	300	322	3.6e-5	SMART
ZnF_C2H2	328	350	5.5e-7	SMART
ZnF_C2H2	356	378	2.1e-6	SMART
ZnF_C2H2	384	406	2.1e-5	SMART
ZnF_C2H2	412	434	5e-6	SMART
ZnF_C2H2	440	462	7.2e-7	SMART
ZnF_C2H2	468	490	6.8e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224641

Meta Mutation Damage Score

0.5431

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,181,997 (GRCm39)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm39)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,038,032 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,755,234 (GRCm39)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,771,973 (GRCm39)	T414S	probably benign	Het
Ces2b	A	T	8: 105,563,501 (GRCm39)	E409D	probably benign	Het
Cfap54	A	G	10: 92,656,981 (GRCm39)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,655,912 (GRCm39)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,766,635 (GRCm39)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm39)		probably null	Het
Cox15	A	G	19: 43,725,228 (GRCm39)	S392P	probably damaging	Het
Cplx3	A	G	9: 57,521,355 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,837,508 (GRCm39)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,453,723 (GRCm39)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,009,381 (GRCm39)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,340,416 (GRCm39)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,016,012 (GRCm39)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,729,449 (GRCm39)	Q84*	probably null	Het
Eif4g3	T	A	4: 137,903,143 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,813 (GRCm39)	D866G	probably damaging	Het
Farsb	A	G	1: 78,449,134 (GRCm39)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,774,640 (GRCm39)	S138C	probably damaging	Het
Frem1	T	G	4: 82,932,069 (GRCm39)	S211R	probably damaging	Het
Gm19410	G	A	8: 36,274,730 (GRCm39)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,709,611 (GRCm39)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,661,654 (GRCm39)	E299G	probably benign	Het
Hao2	T	G	3: 98,784,451 (GRCm39)	I305L	probably benign	Het
Hectd4	C	T	5: 121,445,444 (GRCm39)	Q122*	probably null	Het
Hivep1	T	A	13: 42,317,760 (GRCm39)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,257,813 (GRCm39)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,542,126 (GRCm39)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,097,769 (GRCm39)	S708R	probably damaging	Het
Mmp15	A	G	8: 96,091,942 (GRCm39)	N51D	probably benign	Het
Naip1	T	C	13: 100,559,585 (GRCm39)	M1140V	probably benign	Het
Niban2	T	A	2: 32,795,838 (GRCm39)	V22D	probably damaging	Het
Or1e1f	A	G	11: 73,856,291 (GRCm39)	N286D	probably damaging	Het
Or2y8	A	G	11: 52,035,520 (GRCm39)	V279A	probably benign	Het
Or8b41	T	A	9: 38,054,449 (GRCm39)	M1K	probably null	Het
Or8k21	A	G	2: 86,145,409 (GRCm39)	S74P	probably damaging	Het
Pard3b	A	T	1: 62,198,629 (GRCm39)	N239I	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha9	T	C	18: 37,131,122 (GRCm39)	S64P	probably damaging	Het
Pdcd1	T	C	1: 93,969,114 (GRCm39)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,143,916 (GRCm39)		probably null	Het
Plekha4	A	T	7: 45,190,310 (GRCm39)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,921,792 (GRCm39)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,249,082 (GRCm39)	T269S	probably benign	Het
Sltm	T	G	9: 70,480,992 (GRCm39)	D281E	probably damaging	Het
Zfp990	T	A	4: 145,263,497 (GRCm39)	V165D	possibly damaging	Het

Other mutations in Zfp708

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0024:Zfp708	UTSW	13	67,218,984 (GRCm39)	nonsense	probably null
R0611:Zfp708	UTSW	13	67,218,375 (GRCm39)	missense	probably benign	0.18
R0627:Zfp708	UTSW	13	67,218,781 (GRCm39)	nonsense	probably null
R1019:Zfp708	UTSW	13	67,222,162 (GRCm39)	missense	probably benign	0.05
R2230:Zfp708	UTSW	13	67,219,036 (GRCm39)	nonsense	probably null
R2512:Zfp708	UTSW	13	67,219,251 (GRCm39)	missense	probably damaging	1.00
R5718:Zfp708	UTSW	13	67,218,522 (GRCm39)	missense	probably benign	0.44
R6128:Zfp708	UTSW	13	67,222,965 (GRCm39)	missense	probably damaging	1.00
R6644:Zfp708	UTSW	13	67,218,785 (GRCm39)	missense	possibly damaging	0.88
R7082:Zfp708	UTSW	13	67,219,200 (GRCm39)	missense	possibly damaging	0.60
R7885:Zfp708	UTSW	13	67,222,193 (GRCm39)	missense	probably benign
R9092:Zfp708	UTSW	13	67,218,564 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCATCGCATTTATAGGGTTTCTC -3'
(R):5'- ATGAGGCTACTGGGAATATAGTATG -3'

Sequencing Primer
(F):5'- CTCTTCCCTATGAATTTGTTGGTG -3'
(R):5'- GCTACTGGGAATATAGTATGCAAATG -3'

Posted On

2018-08-01