Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Zfp788'

668932

Institutional Source

Beutler Lab

Gene Symbol

Zfp788

Ensembl Gene

ENSMUSG00000074165

Gene Name

zinc finger protein 788

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41633203-41651530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41648416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 159 (N159D)

Ref Sequence

ENSEMBL: ENSMUSP00000096108 (fasta)

Gene Model

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

AlphaFold

E9Q980

Predicted Effect

probably benign
Transcript: ENSMUST00000045720
AA Change: N139D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000035499
Gene: ENSMUSG00000074165
AA Change: N139D

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

probably benign
Transcript: ENSMUST00000098508
AA Change: N159D

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096108
Gene: ENSMUSG00000074165
AA Change: N159D

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: N107D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097847
Gene: ENSMUSG00000074165
AA Change: N107D

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: N107D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116050
Gene: ENSMUSG00000074165
AA Change: N107D

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: N107D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132848
Gene: ENSMUSG00000074165
AA Change: N107D

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het

Other mutations in Zfp788

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Zfp788	UTSW	7	41649625	nonsense	probably null
BB017:Zfp788	UTSW	7	41649625	nonsense	probably null
R0207:Zfp788	UTSW	7	41649596	missense	probably damaging	1.00
R0320:Zfp788	UTSW	7	41649547	missense	probably damaging	1.00
R0608:Zfp788	UTSW	7	41648281	missense	possibly damaging	0.53
R1184:Zfp788	UTSW	7	41648326	missense	probably damaging	1.00
R1483:Zfp788	UTSW	7	41649075	nonsense	probably null
R1985:Zfp788	UTSW	7	41650481	missense	probably damaging	0.98
R2030:Zfp788	UTSW	7	41649560	missense	probably damaging	1.00
R2207:Zfp788	UTSW	7	41649640	missense	probably damaging	0.99
R2313:Zfp788	UTSW	7	41648888	missense	probably damaging	0.99
R3791:Zfp788	UTSW	7	41649728	missense	probably damaging	0.99
R3872:Zfp788	UTSW	7	41649444	nonsense	probably null
R4126:Zfp788	UTSW	7	41649436	missense	probably damaging	0.97
R4579:Zfp788	UTSW	7	41647594	missense	probably benign	0.00
R4833:Zfp788	UTSW	7	41647568	missense	probably benign	0.31
R5076:Zfp788	UTSW	7	41648584	missense	possibly damaging	0.93
R5175:Zfp788	UTSW	7	41649329	missense	probably damaging	1.00
R5225:Zfp788	UTSW	7	41649556	missense	probably benign	0.16
R5364:Zfp788	UTSW	7	41650127	missense	probably damaging	1.00
R5427:Zfp788	UTSW	7	41649652	missense	possibly damaging	0.82
R5484:Zfp788	UTSW	7	41649853	missense	probably damaging	0.96
R5659:Zfp788	UTSW	7	41650116	nonsense	probably null
R5917:Zfp788	UTSW	7	41649148	missense	probably benign
R6064:Zfp788	UTSW	7	41648454	missense	probably benign	0.18
R6128:Zfp788	UTSW	7	41650361	missense	probably damaging	1.00
R6144:Zfp788	UTSW	7	41649769	missense	probably damaging	0.97
R6182:Zfp788	UTSW	7	41650516	missense	probably damaging	0.98
R6299:Zfp788	UTSW	7	41648541	missense	possibly damaging	0.81
R6823:Zfp788	UTSW	7	41649560	missense	probably damaging	1.00
R6974:Zfp788	UTSW	7	41649877	nonsense	probably null
R7497:Zfp788	UTSW	7	41648851	missense	possibly damaging	0.92
R7930:Zfp788	UTSW	7	41649625	nonsense	probably null
R7979:Zfp788	UTSW	7	41634900	critical splice donor site	probably null
R8178:Zfp788	UTSW	7	41648911	missense	probably damaging	1.00
R8193:Zfp788	UTSW	7	41648614	missense	probably benign	0.35
R8195:Zfp788	UTSW	7	41649377	missense	probably benign	0.01
R8964:Zfp788	UTSW	7	41647579	missense	probably damaging	1.00
R9037:Zfp788	UTSW	7	41648891	missense	probably damaging	0.99
R9122:Zfp788	UTSW	7	41650495	nonsense	probably null
R9133:Zfp788	UTSW	7	41650060	missense
R9256:Zfp788	UTSW	7	41650214	missense	probably benign	0.03
R9372:Zfp788	UTSW	7	41650284	nonsense	probably null
R9570:Zfp788	UTSW	7	41650582	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGATCAATCTGGAGAAATCTTCACC -3'
(R):5'- TCTTCCACGACTTTCACAGG -3'

Sequencing Primer
(F):5'- TGGAGAAATCTTCACCAAGACAC -3'
(R):5'- GCTCGGAGCTCTACCAAATG -3'

Posted On

2021-04-30