Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Zfp738'

42495

Institutional Source

Beutler Lab

Gene Symbol

Zfp738

Ensembl Gene

ENSMUSG00000048280

Gene Name

zinc finger protein 738

Synonyms

6720487G11Rik, 3830402I07Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67815560-67831631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67818140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 617 (H617P)

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: H617P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: H617P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225507

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp595	C	T	13: 67,465,369 (GRCm39)	G298E	probably damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Zfp738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Zfp738	APN	13	67,831,520 (GRCm39)	critical splice donor site	probably null
IGL01734:Zfp738	APN	13	67,831,563 (GRCm39)	utr 5 prime	probably benign
IGL01980:Zfp738	APN	13	67,818,096 (GRCm39)	missense	possibly damaging	0.80
IGL02052:Zfp738	APN	13	67,819,600 (GRCm39)	missense	possibly damaging	0.87
IGL02330:Zfp738	APN	13	67,819,550 (GRCm39)	missense	probably damaging	0.99
IGL02686:Zfp738	APN	13	67,821,771 (GRCm39)	missense	probably damaging	1.00
I2505:Zfp738	UTSW	13	67,821,186 (GRCm39)	missense	probably benign	0.36
R0219:Zfp738	UTSW	13	67,831,508 (GRCm39)	intron	probably benign
R0722:Zfp738	UTSW	13	67,819,643 (GRCm39)	missense	probably benign	0.09
R1116:Zfp738	UTSW	13	67,818,362 (GRCm39)	splice site	probably null
R1425:Zfp738	UTSW	13	67,818,894 (GRCm39)	missense	possibly damaging	0.77
R1854:Zfp738	UTSW	13	67,818,476 (GRCm39)	missense	probably damaging	1.00
R2095:Zfp738	UTSW	13	67,819,422 (GRCm39)	missense	probably damaging	1.00
R2171:Zfp738	UTSW	13	67,819,096 (GRCm39)	nonsense	probably null
R2180:Zfp738	UTSW	13	67,819,313 (GRCm39)	missense	probably damaging	1.00
R2225:Zfp738	UTSW	13	67,818,431 (GRCm39)	missense	probably damaging	1.00
R2226:Zfp738	UTSW	13	67,818,431 (GRCm39)	missense	probably damaging	1.00
R2907:Zfp738	UTSW	13	67,818,231 (GRCm39)	missense	probably benign	0.33
R3605:Zfp738	UTSW	13	67,819,508 (GRCm39)	nonsense	probably null
R4731:Zfp738	UTSW	13	67,818,033 (GRCm39)	missense	probably damaging	1.00
R5037:Zfp738	UTSW	13	67,818,320 (GRCm39)	missense	probably damaging	1.00
R5223:Zfp738	UTSW	13	67,821,182 (GRCm39)	missense	probably damaging	0.99
R5259:Zfp738	UTSW	13	67,817,805 (GRCm39)	missense	probably benign
R5358:Zfp738	UTSW	13	67,819,131 (GRCm39)	missense	probably damaging	0.98
R6404:Zfp738	UTSW	13	67,819,179 (GRCm39)	missense	possibly damaging	0.89
R6874:Zfp738	UTSW	13	67,818,382 (GRCm39)	missense	possibly damaging	0.93
R7041:Zfp738	UTSW	13	67,818,420 (GRCm39)	missense	probably damaging	1.00
R7172:Zfp738	UTSW	13	67,818,527 (GRCm39)	missense	probably damaging	1.00
R7178:Zfp738	UTSW	13	67,821,147 (GRCm39)	missense	probably damaging	1.00
R7308:Zfp738	UTSW	13	67,817,672 (GRCm39)	missense	probably benign	0.00
R7386:Zfp738	UTSW	13	67,818,369 (GRCm39)	missense	probably damaging	1.00
R7453:Zfp738	UTSW	13	67,818,474 (GRCm39)	missense	probably benign	0.42
R7456:Zfp738	UTSW	13	67,817,619 (GRCm39)	missense	probably damaging	1.00
R7467:Zfp738	UTSW	13	67,821,080 (GRCm39)	missense	probably benign	0.03
R7615:Zfp738	UTSW	13	67,818,322 (GRCm39)	missense	probably damaging	0.96
R7663:Zfp738	UTSW	13	67,831,520 (GRCm39)	critical splice donor site	probably null
R7752:Zfp738	UTSW	13	67,821,110 (GRCm39)	nonsense	probably null
R7901:Zfp738	UTSW	13	67,821,110 (GRCm39)	nonsense	probably null
R8042:Zfp738	UTSW	13	67,819,010 (GRCm39)	missense	probably damaging	0.98
R8288:Zfp738	UTSW	13	67,818,908 (GRCm39)	missense	possibly damaging	0.88
R8340:Zfp738	UTSW	13	67,819,231 (GRCm39)	missense	probably damaging	0.98
R8735:Zfp738	UTSW	13	67,819,550 (GRCm39)	missense	probably damaging	0.99
R8846:Zfp738	UTSW	13	67,818,155 (GRCm39)	missense	probably benign	0.00
R8896:Zfp738	UTSW	13	67,817,910 (GRCm39)	missense
R9124:Zfp738	UTSW	13	67,819,457 (GRCm39)	missense	possibly damaging	0.94
R9233:Zfp738	UTSW	13	67,819,017 (GRCm39)	missense	possibly damaging	0.88
R9513:Zfp738	UTSW	13	67,817,635 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTTTAGAAAGTGATGACAGAGAACGG -3'
(R):5'- gagagaaaccatacaagtgtGAAGTATGTCAA -3'

Sequencing Primer
(F):5'- TCacatttgtatggtttctctcttg -3'
(R):5'- taagtgtgaagtatgtgggaagg -3'

Posted On

2013-05-23