Mutagenetix > Incidental Mutation

Incidental Mutation 'R8288:Zfp738'

638540

Institutional Source

Beutler Lab

Gene Symbol

Zfp738

Ensembl Gene

ENSMUSG00000048280

Gene Name

zinc finger protein 738

Synonyms

6720487G11Rik, 3830402I07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67658685-67687071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67670789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 361 (H361L)

Ref Sequence

ENSEMBL: ENSMUSP00000121275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110973] [ENSMUST00000125495] [ENSMUST00000137496] [ENSMUST00000175678] [ENSMUST00000175821]

AlphaFold

B8JJX8

Predicted Effect

probably benign
Transcript: ENSMUST00000110973

SMART Domains

Protein: ENSMUSP00000106600
Gene: ENSMUSG00000048280

Domain	Start	End	E-Value	Type
KRAB	2	62	1.97e-31	SMART
SCOP:d1fgja_	76	119	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125495

SMART Domains

Protein: ENSMUSP00000135683
Gene: ENSMUSG00000048280

Domain	Start	End	E-Value	Type
KRAB	5	65	1.97e-31	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137496
AA Change: H361L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: H361L

Domain	Start	End	E-Value	Type
KRAB	15	75	1.97e-31	SMART
ZnF_C2H2	91	111	3.13e1	SMART
ZnF_C2H2	119	141	9.56e1	SMART
ZnF_C2H2	147	169	3.58e-2	SMART
ZnF_C2H2	175	197	3.21e-4	SMART
ZnF_C2H2	203	225	6.78e-3	SMART
ZnF_C2H2	231	253	8.34e-3	SMART
ZnF_C2H2	259	281	6.67e-2	SMART
ZnF_C2H2	287	309	1.12e-3	SMART
ZnF_C2H2	315	337	3.83e-2	SMART
ZnF_C2H2	343	365	8.34e-3	SMART
ZnF_C2H2	371	393	4.87e-4	SMART
ZnF_C2H2	427	449	9.58e-3	SMART
ZnF_C2H2	455	477	1.38e-3	SMART
ZnF_C2H2	483	505	3.89e-3	SMART
ZnF_C2H2	511	533	7.49e-5	SMART
ZnF_C2H2	539	561	5.5e-3	SMART
ZnF_C2H2	567	589	5.42e-2	SMART
ZnF_C2H2	595	617	7.78e-3	SMART
ZnF_C2H2	623	645	2.05e-2	SMART
ZnF_C2H2	651	673	2.57e-3	SMART
ZnF_C2H2	679	701	7.26e-3	SMART
ZnF_C2H2	735	757	5.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175678

SMART Domains

Protein: ENSMUSP00000134865
Gene: ENSMUSG00000048280

Domain	Start	End	E-Value	Type
KRAB	15	75	1.97e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175821

SMART Domains

Protein: ENSMUSP00000135050
Gene: ENSMUSG00000048280

Domain	Start	End	E-Value	Type
KRAB	5	65	1.97e-31	SMART
ZnF_C2H2	81	101	3.13e1	SMART
ZnF_C2H2	109	131	9.56e1	SMART
ZnF_C2H2	137	159	3.58e-2	SMART
ZnF_C2H2	165	187	3.21e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	C	T	8: 22,793,137	A200T	probably benign	Het
Arpp19	T	C	9: 75,037,632	M1T	probably null	Het
Baiap2	T	A	11: 119,997,639	V407E	probably damaging	Het
Cdh18	A	G	15: 23,445,987	T508A	probably damaging	Het
Cnnm3	C	A	1: 36,511,993	A28E	possibly damaging	Het
Cpb1	A	T	3: 20,265,367	C184*	probably null	Het
Ddb1	T	C	19: 10,608,348	V142A	probably benign	Het
Disp2	T	C	2: 118,790,281	V498A	probably damaging	Het
Dmgdh	T	C	13: 93,708,824	Y442H	probably damaging	Het
Eef2k	T	A	7: 120,903,381	M722K	probably damaging	Het
Erbb4	A	G	1: 68,298,350	F603S	probably damaging	Het
Filip1l	C	T	16: 57,570,554	R502C	probably damaging	Het
Gbp9	C	T	5: 105,105,733	V39M	probably damaging	Het
Gm17079	T	C	14: 51,694,358	Y98C		Het
Gstz1	A	G	12: 87,147,830	M1V	probably null	Het
Hsd17b13	T	G	5: 103,963,835	I281L	probably benign	Het
Hydin	A	G	8: 110,507,029	E1833G	probably damaging	Het
Irs1	G	A	1: 82,287,961	Q845*	probably null	Het
Kctd11	C	T	11: 69,880,057	G52R	probably damaging	Het
Kit	T	C	5: 75,654,489	S962P	probably damaging	Het
Lrrn1	C	T	6: 107,566,994		probably benign	Het
Mastl	T	C	2: 23,133,359	K451E	probably damaging	Het
Mptx2	A	G	1: 173,274,789	V111A	probably benign	Het
Nuak2	G	T	1: 132,327,841	C178F	probably damaging	Het
Pah	G	A	10: 87,538,185	R71H	probably benign	Het
Pclo	C	A	5: 14,712,871	T501K		Het
Pla2g4e	C	T	2: 120,188,509		probably null	Het
Polq	A	G	16: 37,027,910	E293G	probably damaging	Het
Rptor	G	A	11: 119,857,937	E782K	probably benign	Het
Scn7a	T	A	2: 66,675,974	R1524W	probably damaging	Het
Slc4a5	T	C	6: 83,226,255	S46P	probably benign	Het
Srcap	T	A	7: 127,531,356	I664N	probably damaging	Het
Stk24	A	C	14: 121,293,429	F372V	possibly damaging	Het
Szt2	T	C	4: 118,389,776	S881G	probably damaging	Het
Trim40	T	C	17: 36,883,318	D161G	probably benign	Het
Trip11	T	C	12: 101,894,384	H234R	possibly damaging	Het
Trpc1	T	C	9: 95,721,381	K366R	probably damaging	Het
Ugt2b35	T	C	5: 87,001,457	L189P	probably damaging	Het
Unc80	A	G	1: 66,473,350	S140G	probably benign	Het
Wdr60	A	G	12: 116,213,725	F811S	probably damaging	Het
Zfp446	A	G	7: 12,977,958	E36G	probably benign	Het

Other mutations in Zfp738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Zfp738	APN	13	67683401	critical splice donor site	probably null
IGL01734:Zfp738	APN	13	67683444	utr 5 prime	probably benign
IGL01980:Zfp738	APN	13	67669977	missense	possibly damaging	0.80
IGL02052:Zfp738	APN	13	67671481	missense	possibly damaging	0.87
IGL02330:Zfp738	APN	13	67671431	missense	probably damaging	0.99
IGL02686:Zfp738	APN	13	67673652	missense	probably damaging	1.00
I2505:Zfp738	UTSW	13	67673067	missense	probably benign	0.36
R0219:Zfp738	UTSW	13	67683389	intron	probably benign
R0491:Zfp738	UTSW	13	67670021	missense	possibly damaging	0.87
R0722:Zfp738	UTSW	13	67671524	missense	probably benign	0.09
R1116:Zfp738	UTSW	13	67670243	splice site	probably null
R1425:Zfp738	UTSW	13	67670775	missense	possibly damaging	0.77
R1854:Zfp738	UTSW	13	67670357	missense	probably damaging	1.00
R2095:Zfp738	UTSW	13	67671303	missense	probably damaging	1.00
R2171:Zfp738	UTSW	13	67670977	nonsense	probably null
R2180:Zfp738	UTSW	13	67671194	missense	probably damaging	1.00
R2225:Zfp738	UTSW	13	67670312	missense	probably damaging	1.00
R2226:Zfp738	UTSW	13	67670312	missense	probably damaging	1.00
R2907:Zfp738	UTSW	13	67670112	missense	probably benign	0.33
R3605:Zfp738	UTSW	13	67671389	nonsense	probably null
R4731:Zfp738	UTSW	13	67669914	missense	probably damaging	1.00
R5037:Zfp738	UTSW	13	67670201	missense	probably damaging	1.00
R5223:Zfp738	UTSW	13	67673063	missense	probably damaging	0.99
R5259:Zfp738	UTSW	13	67669686	missense	probably benign
R5358:Zfp738	UTSW	13	67671012	missense	probably damaging	0.98
R6404:Zfp738	UTSW	13	67671060	missense	possibly damaging	0.89
R6874:Zfp738	UTSW	13	67670263	missense	possibly damaging	0.93
R7041:Zfp738	UTSW	13	67670301	missense	probably damaging	1.00
R7172:Zfp738	UTSW	13	67670408	missense	probably damaging	1.00
R7178:Zfp738	UTSW	13	67673028	missense	probably damaging	1.00
R7308:Zfp738	UTSW	13	67669553	missense	probably benign	0.00
R7386:Zfp738	UTSW	13	67670250	missense	probably damaging	1.00
R7453:Zfp738	UTSW	13	67670355	missense	probably benign	0.42
R7456:Zfp738	UTSW	13	67669500	missense	probably damaging	1.00
R7467:Zfp738	UTSW	13	67672961	missense	probably benign	0.03
R7615:Zfp738	UTSW	13	67670203	missense	probably damaging	0.96
R7663:Zfp738	UTSW	13	67683401	critical splice donor site	probably null
R7752:Zfp738	UTSW	13	67672991	nonsense	probably null
R7901:Zfp738	UTSW	13	67672991	nonsense	probably null
R8042:Zfp738	UTSW	13	67670891	missense	probably damaging	0.98
R8340:Zfp738	UTSW	13	67671112	missense	probably damaging	0.98
R8735:Zfp738	UTSW	13	67671431	missense	probably damaging	0.99
R8846:Zfp738	UTSW	13	67670036	missense	probably benign	0.00
R8896:Zfp738	UTSW	13	67669791	missense
R9124:Zfp738	UTSW	13	67671338	missense	possibly damaging	0.94
R9233:Zfp738	UTSW	13	67670898	missense	possibly damaging	0.88
R9513:Zfp738	UTSW	13	67669516	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCACACTGGAATGGTTTCTCT -3'
(R):5'- TACAAGTGTGAGGTATGTGGCAA -3'

Sequencing Primer
(F):5'- GCCACATACTTCACACTTGTAGGG -3'
(R):5'- AGGCCTTCCATTATCCATCAAG -3'

Posted On

2020-07-28