Mutagenetix > Incidental Mutation

Incidental Mutation 'R7456:Zfp738'

578154

Institutional Source

Beutler Lab

Gene Symbol

Zfp738

Ensembl Gene

ENSMUSG00000048280

Gene Name

zinc finger protein 738

Synonyms

6720487G11Rik, 3830402I07Rik

MMRRC Submission

045530-MU

Accession Numbers

Essential gene?

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

Stock #

R7456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67815560-67831631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67817619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 791 (Y791H)

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

probably damaging
Transcript: ENSMUST00000137496
AA Change: Y791H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: Y791H

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: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	A	G	4: 86,792,748 (GRCm39)	D8G	possibly damaging	Het
Angpt4	T	C	2: 151,780,987 (GRCm39)	Y412H	probably damaging	Het
Ankef1	A	G	2: 136,387,734 (GRCm39)	D217G	probably benign	Het
Ano2	A	T	6: 125,940,508 (GRCm39)	I544F	probably benign	Het
App	G	A	16: 84,970,448 (GRCm39)			Het
Arhgef26	A	G	3: 62,247,476 (GRCm39)	T187A	probably benign	Het
Axin1	T	A	17: 26,362,139 (GRCm39)	V161E	probably damaging	Het
Bbs7	A	T	3: 36,648,527 (GRCm39)	V407D	probably damaging	Het
C1qtnf3	A	T	15: 10,972,137 (GRCm39)	E141V	probably benign	Het
C2	A	G	17: 35,083,558 (GRCm39)	I469T	probably damaging	Het
Cc2d1a	A	G	8: 84,866,868 (GRCm39)		probably null	Het
Cd226	A	T	18: 89,224,747 (GRCm39)	I10F	probably damaging	Het
Cep295nl	T	C	11: 118,224,376 (GRCm39)	K156R	possibly damaging	Het
Cfap20dc	A	T	14: 8,442,933 (GRCm38)	L612*	probably null	Het
Cfap44	A	G	16: 44,252,305 (GRCm39)	T805A	probably benign	Het
Chd9	G	T	8: 91,659,153 (GRCm39)	E38*	probably null	Het
Cldnd2	C	T	7: 43,091,109 (GRCm39)	L14F	not run	Het
Cyp11b2	T	C	15: 74,725,379 (GRCm39)	T247A	probably benign	Het
Dennd11	T	G	6: 40,383,774 (GRCm39)	M423L	probably benign	Het
Dsc1	T	C	18: 20,219,879 (GRCm39)	S764G	probably benign	Het
Dsg3	A	T	18: 20,664,420 (GRCm39)	T473S	probably benign	Het
Fam193a	A	T	5: 34,578,132 (GRCm39)	I209F	possibly damaging	Het
Foxs1	T	C	2: 152,775,045 (GRCm39)	K3E	probably benign	Het
Gabrr3	C	T	16: 59,227,853 (GRCm39)	Q37*	probably null	Het
Gcm2	A	T	13: 41,256,751 (GRCm39)	W333R	probably benign	Het
Gcn1	C	T	5: 115,743,005 (GRCm39)	Q1559*	probably null	Het
Gfm2	A	T	13: 97,282,211 (GRCm39)	K69*	probably null	Het
Gm14295	T	G	2: 176,500,943 (GRCm39)	C144W	possibly damaging	Het
Gm32742	G	A	9: 51,071,270 (GRCm39)	T5I	probably damaging	Het
Gm5093	T	C	17: 46,750,679 (GRCm39)	D116G	probably damaging	Het
Gsn	A	T	2: 35,172,718 (GRCm39)	K3N	possibly damaging	Het
H2-M2	C	T	17: 37,792,552 (GRCm39)	D240N	possibly damaging	Het
Habp2	G	C	19: 56,307,957 (GRCm39)	G482R	probably damaging	Het
Hnrnpm	A	T	17: 33,865,622 (GRCm39)	Y680N	possibly damaging	Het
Hrc	T	A	7: 44,986,320 (GRCm39)	D490E	possibly damaging	Het
Impg2	A	G	16: 56,080,276 (GRCm39)	I693M	probably benign	Het
Itga7	A	G	10: 128,777,805 (GRCm39)	Y262C	probably damaging	Het
Kif1c	A	G	11: 70,619,424 (GRCm39)	T1020A	probably benign	Het
Kif23	T	C	9: 61,844,402 (GRCm39)	I139V	probably benign	Het
Klk1b5	A	G	7: 43,500,255 (GRCm39)	E281G	probably benign	Het
Kpna4	A	G	3: 69,000,181 (GRCm39)	V275A	probably damaging	Het
Lamb2	C	A	9: 108,362,979 (GRCm39)	D787E	possibly damaging	Het
Ldlrad3	A	C	2: 101,785,270 (GRCm39)	V235G	probably damaging	Het
Maneal	A	G	4: 124,750,767 (GRCm39)	S330P	probably damaging	Het
Maz	G	A	7: 126,625,489 (GRCm39)	Q35*	probably null	Het
Mthfd1l	C	T	10: 4,039,998 (GRCm39)	T803M	probably damaging	Het
Muc5ac	A	G	7: 141,346,904 (GRCm39)	Q325R	probably benign	Het
Myo3a	C	A	2: 22,412,255 (GRCm39)	A758E	probably benign	Het
Ndufb7	A	G	8: 84,293,482 (GRCm39)	D12G	probably benign	Het
Nsun2	T	A	13: 69,781,725 (GRCm39)	C677S	probably damaging	Het
Obscn	A	G	11: 58,899,384 (GRCm39)	F6471S	probably benign	Het
Or4c106	A	T	2: 88,682,563 (GRCm39)	I90F	probably damaging	Het
Or51k1	A	G	7: 103,661,045 (GRCm39)	V288A	possibly damaging	Het
Or7g32	T	C	9: 19,408,844 (GRCm39)	S267P	probably damaging	Het
Otof	T	C	5: 30,552,005 (GRCm39)	D313G	probably damaging	Het
Paqr5	T	C	9: 61,880,072 (GRCm39)	D74G	probably benign	Het
Pigq	A	G	17: 26,153,580 (GRCm39)	V365A	unknown	Het
Podn	A	T	4: 107,875,002 (GRCm39)	N588K	probably benign	Het
Polr3b	G	A	10: 84,458,355 (GRCm39)	G9R	probably benign	Het
Proser1	A	G	3: 53,385,939 (GRCm39)	H607R	probably damaging	Het
Ryr2	C	T	13: 11,767,168 (GRCm39)	V1241I	probably benign	Het
Sar1b	G	A	11: 51,682,181 (GRCm39)	A170T	probably benign	Het
Slc22a17	T	C	14: 55,149,716 (GRCm39)	T191A	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,779 (GRCm39)		unknown	Het
Slco6d1	A	T	1: 98,349,082 (GRCm39)	D51V	possibly damaging	Het
Snx16	G	A	3: 10,500,541 (GRCm39)	R143*	probably null	Het
Sytl2	T	A	7: 89,998,055 (GRCm39)	L19Q	probably damaging	Het
Tmcc3	A	G	10: 94,418,174 (GRCm39)	E345G	possibly damaging	Het
Ttn	C	T	2: 76,555,998 (GRCm39)	A30336T	probably damaging	Het
Vmn1r44	A	G	6: 89,870,401 (GRCm39)	D49G	probably benign	Het
Vps35l	C	T	7: 118,403,340 (GRCm39)	P628S	probably benign	Het
Vps41	T	A	13: 19,048,204 (GRCm39)	D801E	probably benign	Het
Wif1	G	A	10: 120,932,554 (GRCm39)	E311K	probably benign	Het
Zfp513	G	T	5: 31,357,759 (GRCm39)	R207S	possibly damaging	Het
Zfp52	C	A	17: 21,781,615 (GRCm39)	H488N	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
R0491:Zfp738	UTSW	13	67,818,140 (GRCm39)	missense	possibly damaging	0.87
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
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'- GATGAGTAATGGAAGGCCTTGC -3'
(R):5'- GCGTTCCATGTTCCATCCAAAC -3'

Sequencing Primer
(F):5'- TGAAACATGGAAGTCCTTGCC -3'
(R):5'- TCTCATCACAAAATAATTCAGACAGG -3'

Posted On

2019-10-07