Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Zfp788'

581131

Institutional Source

Beutler Lab

Gene Symbol

Zfp788

Ensembl Gene

ENSMUSG00000074165

Gene Name

zinc finger protein 788

Synonyms

2810426N06Rik

MMRRC Submission

045570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41282955-41300305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41298275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 304 (I304F)

Ref Sequence

ENSEMBL: ENSMUSP00000096108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045720] [ENSMUST00000098508] [ENSMUST00000100275] [ENSMUST00000131180] [ENSMUST00000140964] [ENSMUST00000154942] [ENSMUST00000170770]

AlphaFold

E9Q980

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045720
AA Change: I284F

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: I284F

Domain	Start	End	E-Value	Type
KRAB	4	67	7.82e-17	SMART
ZnF_C2H2	218	240	2.53e-2	SMART
ZnF_C2H2	246	268	2.71e-2	SMART
ZnF_C2H2	274	296	8.47e-4	SMART
ZnF_C2H2	302	324	3.16e-3	SMART
ZnF_C2H2	330	352	1.38e-3	SMART
ZnF_C2H2	358	380	4.54e-4	SMART
ZnF_C2H2	386	408	1.36e-2	SMART
ZnF_C2H2	414	436	2.24e-3	SMART
ZnF_C2H2	442	464	5.14e-3	SMART
ZnF_C2H2	470	492	5.14e-3	SMART
ZnF_C2H2	498	520	5.42e-2	SMART
ZnF_C2H2	526	548	8.6e-5	SMART
ZnF_C2H2	554	576	1.53e-1	SMART
ZnF_C2H2	582	604	2.4e-3	SMART
ZnF_C2H2	610	632	8.81e-2	SMART
ZnF_C2H2	638	660	9.58e-3	SMART
ZnF_C2H2	666	688	4.54e-4	SMART
ZnF_C2H2	694	716	1.1e-2	SMART
ZnF_C2H2	722	744	3.63e-3	SMART
ZnF_C2H2	750	772	8.94e-3	SMART
ZnF_C2H2	778	800	1.5e-4	SMART
ZnF_C2H2	806	828	4.24e-4	SMART
ZnF_C2H2	834	856	5.06e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098508
AA Change: I304F

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: I304F

Domain	Start	End	E-Value	Type
KRAB	24	87	7.82e-17	SMART
ZnF_C2H2	238	260	2.53e-2	SMART
ZnF_C2H2	266	288	2.71e-2	SMART
ZnF_C2H2	294	316	8.47e-4	SMART
ZnF_C2H2	322	344	3.16e-3	SMART
ZnF_C2H2	350	372	1.38e-3	SMART
ZnF_C2H2	378	400	4.54e-4	SMART
ZnF_C2H2	406	428	1.36e-2	SMART
ZnF_C2H2	434	456	2.24e-3	SMART
ZnF_C2H2	462	484	5.14e-3	SMART
ZnF_C2H2	490	512	5.14e-3	SMART
ZnF_C2H2	518	540	5.42e-2	SMART
ZnF_C2H2	546	568	8.6e-5	SMART
ZnF_C2H2	574	596	1.53e-1	SMART
ZnF_C2H2	602	624	2.4e-3	SMART
ZnF_C2H2	630	652	8.81e-2	SMART
ZnF_C2H2	658	680	9.58e-3	SMART
ZnF_C2H2	686	708	4.54e-4	SMART
ZnF_C2H2	714	736	1.1e-2	SMART
ZnF_C2H2	742	764	3.63e-3	SMART
ZnF_C2H2	770	792	8.94e-3	SMART
ZnF_C2H2	798	820	1.5e-4	SMART
ZnF_C2H2	826	848	4.24e-4	SMART
ZnF_C2H2	854	876	5.06e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100275
AA Change: I252F

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: I252F

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	1e-16	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART
ZnF_C2H2	298	320	1.38e-3	SMART
ZnF_C2H2	326	348	4.54e-4	SMART
ZnF_C2H2	354	376	1.36e-2	SMART
ZnF_C2H2	382	404	2.24e-3	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	5.14e-3	SMART
ZnF_C2H2	466	488	5.42e-2	SMART
ZnF_C2H2	494	516	8.6e-5	SMART
ZnF_C2H2	522	544	1.53e-1	SMART
ZnF_C2H2	550	572	2.4e-3	SMART
ZnF_C2H2	578	600	8.81e-2	SMART
ZnF_C2H2	606	628	9.58e-3	SMART
ZnF_C2H2	634	656	4.54e-4	SMART
ZnF_C2H2	662	684	1.1e-2	SMART
ZnF_C2H2	690	712	3.63e-3	SMART
ZnF_C2H2	718	740	8.94e-3	SMART
ZnF_C2H2	746	768	1.5e-4	SMART
ZnF_C2H2	774	796	4.24e-4	SMART
ZnF_C2H2	802	824	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131180

SMART Domains

Protein: ENSMUSP00000114542
Gene: ENSMUSG00000074165

Domain	Start	End	E-Value	Type
KRAB	24	87	7.82e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140964
AA Change: I252F

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: I252F

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	4e-17	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170770
AA Change: I252F

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: I252F

Domain	Start	End	E-Value	Type
Blast:KRAB	1	35	1e-16	BLAST
ZnF_C2H2	186	208	2.53e-2	SMART
ZnF_C2H2	214	236	2.71e-2	SMART
ZnF_C2H2	242	264	8.47e-4	SMART
ZnF_C2H2	270	292	3.16e-3	SMART
ZnF_C2H2	298	320	1.38e-3	SMART
ZnF_C2H2	326	348	4.54e-4	SMART
ZnF_C2H2	354	376	1.36e-2	SMART
ZnF_C2H2	382	404	2.24e-3	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	5.14e-3	SMART
ZnF_C2H2	466	488	5.42e-2	SMART
ZnF_C2H2	494	516	8.6e-5	SMART
ZnF_C2H2	522	544	1.53e-1	SMART
ZnF_C2H2	550	572	2.4e-3	SMART
ZnF_C2H2	578	600	8.81e-2	SMART
ZnF_C2H2	606	628	9.58e-3	SMART
ZnF_C2H2	634	656	4.54e-4	SMART
ZnF_C2H2	662	684	1.1e-2	SMART
ZnF_C2H2	690	712	3.63e-3	SMART
ZnF_C2H2	718	740	8.94e-3	SMART
ZnF_C2H2	746	768	1.5e-4	SMART
ZnF_C2H2	774	796	4.24e-4	SMART
ZnF_C2H2	802	824	5.06e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,075,379 (GRCm39)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,262,352 (GRCm39)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Agap2	T	C	10: 126,926,834 (GRCm39)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,701,401 (GRCm39)	S79A	probably damaging	Het
Atm	G	A	9: 53,423,191 (GRCm39)	S645L	probably benign	Het
Cdh11	T	C	8: 103,400,456 (GRCm39)	R171G	probably benign	Het
Ces2f	T	A	8: 105,681,330 (GRCm39)	D556E	probably benign	Het
Cfap210	A	C	2: 69,588,792 (GRCm39)	N439K	probably benign	Het
Cyp26b1	C	A	6: 84,553,964 (GRCm39)	V218L	possibly damaging	Het
Diaph1	T	C	18: 38,028,353 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,367,003 (GRCm39)	I482V	probably benign	Het
Dok4	A	T	8: 95,594,053 (GRCm39)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,036,028 (GRCm39)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,066,558 (GRCm39)	V157E	probably damaging	Het
Efcab3	T	C	11: 104,653,516 (GRCm39)		probably null	Het
Eif2a	C	A	3: 58,456,102 (GRCm39)	P367Q	probably damaging	Het
Elp2	C	T	18: 24,744,985 (GRCm39)	R102C	probably damaging	Het
Erich2	T	C	2: 70,364,666 (GRCm39)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,717,467 (GRCm39)	D148V	probably damaging	Het
Gadl1	A	T	9: 115,903,155 (GRCm39)	I495L	probably benign	Het
Gcnt4	A	G	13: 97,083,468 (GRCm39)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,550,887 (GRCm39)	K21E	unknown	Het
Gm57859	T	A	11: 113,583,223 (GRCm39)	W517R	probably damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Gp2	C	T	7: 119,053,829 (GRCm39)	C44Y	probably damaging	Het
Hcar2	C	T	5: 124,003,249 (GRCm39)	V85I	probably benign	Het
Hira	T	C	16: 18,770,829 (GRCm39)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,477,156 (GRCm39)	T49S	probably damaging	Het
Ints1	C	T	5: 139,754,731 (GRCm39)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,374,404 (GRCm39)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,747,827 (GRCm39)		probably benign	Het
Krit1	A	G	5: 3,862,349 (GRCm39)	H168R	possibly damaging	Het
Map3k21	A	T	8: 126,654,340 (GRCm39)	E386D	probably damaging	Het
Muc16	C	T	9: 18,556,385 (GRCm39)	E3303K	unknown	Het
Muc5b	T	G	7: 141,415,250 (GRCm39)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,104,983 (GRCm39)	L189P		Het
Nlrc5	T	C	8: 95,248,598 (GRCm39)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,071,257 (GRCm39)	K402R	probably benign	Het
Or4b1b	T	A	2: 90,112,098 (GRCm39)	T274S	possibly damaging	Het
Or4k15	T	A	14: 50,364,952 (GRCm39)	L306Q	probably benign	Het
Or52s19	T	C	7: 103,008,219 (GRCm39)	M61V	probably damaging	Het
Or8u8	T	C	2: 86,012,417 (GRCm39)	I13V	probably benign	Het
Pnma8b	A	G	7: 16,678,874 (GRCm39)		probably benign	Het
Pnpt1	A	T	11: 29,080,860 (GRCm39)	M35L	probably benign	Het
Postn	A	G	3: 54,270,091 (GRCm39)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm39)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,422,942 (GRCm39)	V71M	possibly damaging	Het
Prdm11	T	A	2: 92,843,052 (GRCm39)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,436,841 (GRCm39)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,560,818 (GRCm39)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,213,923 (GRCm39)	E16*	probably null	Het
Scara3	T	C	14: 66,168,651 (GRCm39)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,481,700 (GRCm39)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,249,139 (GRCm39)	D323G	probably damaging	Het
Slc19a3	T	C	1: 82,991,649 (GRCm39)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,099,894 (GRCm39)	K137E	probably damaging	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Taok2	G	A	7: 126,474,050 (GRCm39)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,219,541 (GRCm39)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,689,264 (GRCm39)		probably null	Het
Usp16	T	A	16: 87,263,174 (GRCm39)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,488,201 (GRCm39)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,843 (GRCm39)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,747,761 (GRCm39)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,246,455 (GRCm39)	I335K	probably benign	Het

Other mutations in Zfp788

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
BB017:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
R0207:Zfp788	UTSW	7	41,299,020 (GRCm39)	missense	probably damaging	1.00
R0320:Zfp788	UTSW	7	41,298,971 (GRCm39)	missense	probably damaging	1.00
R0608:Zfp788	UTSW	7	41,297,705 (GRCm39)	missense	possibly damaging	0.53
R1184:Zfp788	UTSW	7	41,297,750 (GRCm39)	missense	probably damaging	1.00
R1483:Zfp788	UTSW	7	41,298,499 (GRCm39)	nonsense	probably null
R1985:Zfp788	UTSW	7	41,299,905 (GRCm39)	missense	probably damaging	0.98
R2030:Zfp788	UTSW	7	41,298,984 (GRCm39)	missense	probably damaging	1.00
R2207:Zfp788	UTSW	7	41,299,064 (GRCm39)	missense	probably damaging	0.99
R2313:Zfp788	UTSW	7	41,298,312 (GRCm39)	missense	probably damaging	0.99
R3791:Zfp788	UTSW	7	41,299,152 (GRCm39)	missense	probably damaging	0.99
R3872:Zfp788	UTSW	7	41,298,868 (GRCm39)	nonsense	probably null
R4126:Zfp788	UTSW	7	41,298,860 (GRCm39)	missense	probably damaging	0.97
R4579:Zfp788	UTSW	7	41,297,018 (GRCm39)	missense	probably benign	0.00
R4833:Zfp788	UTSW	7	41,296,992 (GRCm39)	missense	probably benign	0.31
R5076:Zfp788	UTSW	7	41,298,008 (GRCm39)	missense	possibly damaging	0.93
R5175:Zfp788	UTSW	7	41,298,753 (GRCm39)	missense	probably damaging	1.00
R5225:Zfp788	UTSW	7	41,298,980 (GRCm39)	missense	probably benign	0.16
R5364:Zfp788	UTSW	7	41,299,551 (GRCm39)	missense	probably damaging	1.00
R5427:Zfp788	UTSW	7	41,299,076 (GRCm39)	missense	possibly damaging	0.82
R5484:Zfp788	UTSW	7	41,299,277 (GRCm39)	missense	probably damaging	0.96
R5659:Zfp788	UTSW	7	41,299,540 (GRCm39)	nonsense	probably null
R5917:Zfp788	UTSW	7	41,298,572 (GRCm39)	missense	probably benign
R6064:Zfp788	UTSW	7	41,297,878 (GRCm39)	missense	probably benign	0.18
R6128:Zfp788	UTSW	7	41,299,785 (GRCm39)	missense	probably damaging	1.00
R6144:Zfp788	UTSW	7	41,299,193 (GRCm39)	missense	probably damaging	0.97
R6182:Zfp788	UTSW	7	41,299,940 (GRCm39)	missense	probably damaging	0.98
R6299:Zfp788	UTSW	7	41,297,965 (GRCm39)	missense	possibly damaging	0.81
R6823:Zfp788	UTSW	7	41,298,984 (GRCm39)	missense	probably damaging	1.00
R6974:Zfp788	UTSW	7	41,299,301 (GRCm39)	nonsense	probably null
R7930:Zfp788	UTSW	7	41,299,049 (GRCm39)	nonsense	probably null
R7979:Zfp788	UTSW	7	41,284,324 (GRCm39)	critical splice donor site	probably null
R8178:Zfp788	UTSW	7	41,298,335 (GRCm39)	missense	probably damaging	1.00
R8193:Zfp788	UTSW	7	41,298,038 (GRCm39)	missense	probably benign	0.35
R8195:Zfp788	UTSW	7	41,298,801 (GRCm39)	missense	probably benign	0.01
R8699:Zfp788	UTSW	7	41,297,840 (GRCm39)	missense	probably benign	0.13
R8964:Zfp788	UTSW	7	41,297,003 (GRCm39)	missense	probably damaging	1.00
R9037:Zfp788	UTSW	7	41,298,315 (GRCm39)	missense	probably damaging	0.99
R9122:Zfp788	UTSW	7	41,299,919 (GRCm39)	nonsense	probably null
R9133:Zfp788	UTSW	7	41,299,484 (GRCm39)	missense
R9256:Zfp788	UTSW	7	41,299,638 (GRCm39)	missense	probably benign	0.03
R9372:Zfp788	UTSW	7	41,299,708 (GRCm39)	nonsense	probably null
R9570:Zfp788	UTSW	7	41,300,006 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TAACGTTTGTGCCACATCCT -3'
(R):5'- GGCTTTTCTGCACTGTGAGTTC -3'

Sequencing Primer
(F):5'- CATTTGGTAGAGCTCCGAGC -3'
(R):5'- CTGCACTGTGAGTTCTTTCATG -3'

Posted On

2019-10-17