Mutagenetix > Incidental Mutation

Incidental Mutation 'R5259:Zfp738'

401319

Institutional Source

Beutler Lab

Gene Symbol

Zfp738

Ensembl Gene

ENSMUSG00000048280

Gene Name

zinc finger protein 738

Synonyms

6720487G11Rik, 3830402I07Rik

MMRRC Submission

042856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5259 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67658685-67687071 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67669686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 729 (Q729K)

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 benign
Transcript: ENSMUST00000137496
AA Change: Q729K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121275
Gene: ENSMUSG00000048280
AA Change: Q729K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	C	8: 45,962,336	E211G	probably benign	Het
2310035C23Rik	A	G	1: 105,721,376	S747G	probably benign	Het
Abhd18	A	C	3: 40,916,890	T50P	probably damaging	Het
Adam5	T	A	8: 24,810,834	L226F	possibly damaging	Het
Adi1	T	C	12: 28,675,545		probably benign	Het
Apc	T	C	18: 34,314,290	V1379A	probably benign	Het
Atp13a4	G	A	16: 29,456,610	T352M	probably damaging	Het
Baat	T	A	4: 49,490,070	N338I	probably benign	Het
Bdnf	A	G	2: 109,723,982	T234A	probably benign	Het
Catsperd	A	C	17: 56,660,235	T539P	possibly damaging	Het
Cd109	A	T	9: 78,710,152	T1311S	probably benign	Het
Ceacam18	T	C	7: 43,637,112		probably null	Het
Chsy3	T	A	18: 59,410,246	S819T	probably damaging	Het
Col4a4	G	T	1: 82,453,893	R1557S	unknown	Het
Ddx18	A	G	1: 121,567,789		probably null	Het
Depdc5	C	T	5: 32,938,291	P824L	probably damaging	Het
Fam13c	C	G	10: 70,441,063	A17G	probably benign	Het
Fermt1	T	C	2: 132,906,765	Y646C	probably damaging	Het
Fra10ac1	A	G	19: 38,199,662	S229P	probably benign	Het
Gbp8	A	T	5: 105,050,979	H23Q	probably benign	Het
Gdf2	T	C	14: 33,944,831	V170A	probably benign	Het
Gm15723	T	C	10: 114,816,817		noncoding transcript	Het
Gm4788	C	T	1: 139,740,495	C300Y	probably damaging	Het
Gm5415	A	T	1: 32,545,517	C437*	probably null	Het
Gm815	G	A	19: 26,886,406	V16I	unknown	Het
Ighv1-75	T	A	12: 115,834,177	K42*	probably null	Het
Isx	A	G	8: 74,892,845	T222A	probably benign	Het
Itgax	G	A	7: 128,148,278	D1018N	probably damaging	Het
Kcnc4	A	G	3: 107,448,085	F349S	probably damaging	Het
Lama3	A	C	18: 12,465,508	S991R	probably damaging	Het
Larp4b	C	T	13: 9,158,184	A398V	probably damaging	Het
Ltbp1	A	G	17: 75,363,362	N1466S	probably benign	Het
Metrn	A	T	17: 25,796,540	L67Q	probably damaging	Het
Morc1	G	A	16: 48,630,769	R937Q	probably benign	Het
Mta3	A	G	17: 83,804,574	Y577C	probably damaging	Het
Nalcn	A	G	14: 123,515,651	F308L	possibly damaging	Het
Nat8	A	T	6: 85,830,891	S87T	probably benign	Het
Olfr319	A	G	11: 58,701,952	N84D	probably benign	Het
Olfr319	A	C	11: 58,701,953	N84T	possibly damaging	Het
Olfr857	A	G	9: 19,712,813		probably null	Het
Oplah	A	T	15: 76,301,210		probably null	Het
Pcdh15	A	T	10: 74,396,372	I668L	possibly damaging	Het
Pecr	A	G	1: 72,277,285		probably null	Het
Plxna4	T	C	6: 32,517,021	E220G	possibly damaging	Het
Pnmal2	A	G	7: 16,945,274	K61R	unknown	Het
Prl8a6	C	T	13: 27,436,196	W81*	probably null	Het
Rab33b	C	T	3: 51,484,612		probably benign	Het
Rbm33	T	A	5: 28,352,774		probably null	Het
Reln	C	T	5: 22,103,397	V325M	possibly damaging	Het
Rheb	A	C	5: 24,803,745	D158E	probably benign	Het
Rhebl1	T	A	15: 98,880,583		probably benign	Het
Rmdn2	T	A	17: 79,668,017	Y312N	probably damaging	Het
Scamp1	T	G	13: 94,232,086	N58T	probably benign	Het
Slc35a1	C	T	4: 34,683,322	V53M	probably benign	Het
Slc35f3	A	T	8: 126,389,133	L266F	probably damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Ticrr	T	A	7: 79,694,723	S1445R	probably benign	Het
Ttc23l	T	C	15: 10,515,150	N381D	probably damaging	Het
Usp17ld	T	A	7: 103,250,574	K384*	probably null	Het
Vmn1r20	T	A	6: 57,432,065	Y125*	probably null	Het
Zfp770	T	A	2: 114,197,193	M132L	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
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'- AAGTGGCGCGACTTTCCAC -3'
(R):5'- GGCCTTCCATTATCCATCAAGAC -3'

Sequencing Primer
(F):5'- GTGGCGCGACTTTCCACATATTAAC -3'
(R):5'- AAGGCTTTCGATTATCCCTCAAGAC -3'

Posted On

2016-07-06