Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Zfp738'

402452

Institutional Source

Beutler Lab

Gene Symbol

Zfp738

Ensembl Gene

ENSMUSG00000048280

Gene Name

zinc finger protein 738

Synonyms

6720487G11Rik, 3830402I07Rik

MMRRC Submission

042796-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67658685-67687071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67673063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 55 (T55K)

Ref Sequence

ENSEMBL: ENSMUSP00000135050 (fasta)

Gene Model

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

AlphaFold

B8JJX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110973
AA Change: T52K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106600
Gene: ENSMUSG00000048280
AA Change: T52K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125495
AA Change: T55K

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135683
Gene: ENSMUSG00000048280
AA Change: T55K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137496
AA Change: T65K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: T65K

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

possibly damaging
Transcript: ENSMUST00000175678
AA Change: T65K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134865
Gene: ENSMUSG00000048280
AA Change: T65K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175821
AA Change: T55K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135050
Gene: ENSMUSG00000048280
AA Change: T55K

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	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
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
R8288:Zfp738	UTSW	13	67670789	missense	possibly damaging	0.88
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'- GGAACACAAGTTAATATCATGGTGG -3'
(R):5'- TGGTGTGCCCATCAGAAAAC -3'

Sequencing Primer
(F):5'- CAAAGCTTATGAGATTCAAAGCATCC -3'
(R):5'- TGGTGTGCCCATCAGAAAACATATG -3'

Posted On

2016-07-22