Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Zfp729b'

652246

Institutional Source

Beutler Lab

Gene Symbol

Zfp729b

Ensembl Gene

ENSMUSG00000058093

Gene Name

zinc finger protein 729b

Synonyms

AA987161

MMRRC Submission

067878-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67589439-67609707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67592577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 523 (P523L)

Ref Sequence

ENSEMBL: ENSMUSP00000012873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012873] [ENSMUST00000138725] [ENSMUST00000224814] [ENSMUST00000225627]

AlphaFold

Q80VN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000012873
AA Change: P523L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: P523L

Domain	Start	End	E-Value	Type
KRAB	5	65	1.63e-28	SMART
ZnF_C2H2	132	154	3.58e-2	SMART
PHD	133	194	1e1	SMART
ZnF_C2H2	160	182	3.21e-4	SMART
ZnF_C2H2	188	210	6.78e-3	SMART
ZnF_C2H2	216	238	3.16e-3	SMART
PHD	217	278	7.77e0	SMART
ZnF_C2H2	244	266	6.67e-2	SMART
ZnF_C2H2	272	294	1.12e-3	SMART
ZnF_C2H2	300	322	1.79e-2	SMART
PHD	301	362	1.65e1	SMART
ZnF_C2H2	328	350	2.57e-3	SMART
ZnF_C2H2	356	378	2.43e-4	SMART
ZnF_C2H2	412	434	1.67e-2	SMART
ZnF_C2H2	440	462	1.28e-3	SMART
PHD	441	502	4.46e0	SMART
ZnF_C2H2	468	490	1.58e-3	SMART
ZnF_C2H2	496	518	2.95e-3	SMART
ZnF_C2H2	524	546	4.47e-3	SMART
PHD	525	586	5.77e0	SMART
ZnF_C2H2	552	574	5.42e-2	SMART
ZnF_C2H2	580	602	1.03e-2	SMART
ZnF_C2H2	608	630	5.5e-3	SMART
PHD	609	670	1.52e1	SMART
ZnF_C2H2	636	658	6.99e-5	SMART
ZnF_C2H2	664	686	3.34e-2	SMART
ZnF_C2H2	720	742	3.63e-3	SMART
PHD	721	782	2.67e0	SMART
ZnF_C2H2	748	770	5.42e-2	SMART
ZnF_C2H2	776	798	5.14e-3	SMART
ZnF_C2H2	804	826	4.17e-3	SMART
ZnF_C2H2	832	854	1.47e-3	SMART
PHD	833	894	4.93e0	SMART
ZnF_C2H2	860	882	3.83e-2	SMART
ZnF_C2H2	888	910	4.4e-2	SMART
ZnF_C2H2	916	938	7.78e-3	SMART
ZnF_C2H2	944	966	4.17e-3	SMART
ZnF_C2H2	972	994	1.38e-3	SMART
ZnF_C2H2	1000	1022	1.69e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138725

SMART Domains

Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093

Domain	Start	End	E-Value	Type
KRAB	15	75	1.63e-28	SMART
ZnF_C2H2	142	164	3.58e-2	SMART
ZnF_C2H2	170	192	3.21e-4	SMART
ZnF_C2H2	198	220	6.78e-3	SMART
ZnF_C2H2	226	248	3.16e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000224814
AA Change: P533L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000225627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het

Other mutations in Zfp729b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02083:Zfp729b	APN	13	67595230	missense	probably benign	0.09
IGL02852:Zfp729b	APN	13	67592823	missense	probably damaging	0.99
PIT4449001:Zfp729b	UTSW	13	67591423	missense	probably benign	0.01
R0238:Zfp729b	UTSW	13	67591903	missense	probably damaging	0.98
R0238:Zfp729b	UTSW	13	67591903	missense	probably damaging	0.98
R0450:Zfp729b	UTSW	13	67591134	missense	probably benign
R0510:Zfp729b	UTSW	13	67591134	missense	probably benign
R1122:Zfp729b	UTSW	13	67595284	missense	possibly damaging	0.75
R1400:Zfp729b	UTSW	13	67592794	missense	possibly damaging	0.63
R1915:Zfp729b	UTSW	13	67593220	missense	probably damaging	1.00
R1929:Zfp729b	UTSW	13	67592233	missense	probably damaging	1.00
R2229:Zfp729b	UTSW	13	67595265	missense	probably damaging	0.99
R2270:Zfp729b	UTSW	13	67592233	missense	probably damaging	1.00
R2271:Zfp729b	UTSW	13	67592233	missense	probably damaging	1.00
R2344:Zfp729b	UTSW	13	67592233	missense	probably damaging	1.00
R2377:Zfp729b	UTSW	13	67591701	missense	possibly damaging	0.70
R2930:Zfp729b	UTSW	13	67591854	missense	probably benign
R3053:Zfp729b	UTSW	13	67593466	missense	probably damaging	1.00
R3404:Zfp729b	UTSW	13	67591164	missense	probably damaging	0.98
R4118:Zfp729b	UTSW	13	67592710	missense	possibly damaging	0.91
R4947:Zfp729b	UTSW	13	67596672	missense	probably damaging	1.00
R5408:Zfp729b	UTSW	13	67591444	missense	probably benign	0.18
R5511:Zfp729b	UTSW	13	67592380	missense	probably damaging	1.00
R5542:Zfp729b	UTSW	13	67591021	missense	probably benign
R5908:Zfp729b	UTSW	13	67591255	missense	probably benign	0.00
R5977:Zfp729b	UTSW	13	67591621	missense	probably benign	0.03
R5996:Zfp729b	UTSW	13	67593858	missense	probably benign	0.18
R7086:Zfp729b	UTSW	13	67592937	missense	probably damaging	0.99
R7146:Zfp729b	UTSW	13	67593376	missense	probably damaging	1.00
R7217:Zfp729b	UTSW	13	67595248	missense	probably damaging	0.96
R7332:Zfp729b	UTSW	13	67609636	splice site	probably null
R7472:Zfp729b	UTSW	13	67593883	missense	probably benign	0.00
R7615:Zfp729b	UTSW	13	67591498	missense	possibly damaging	0.77
R7639:Zfp729b	UTSW	13	67591852	missense	probably benign	0.02
R7652:Zfp729b	UTSW	13	67591252	missense	probably benign	0.00
R7738:Zfp729b	UTSW	13	67592075	missense	probably benign	0.00
R8137:Zfp729b	UTSW	13	67592742	missense	probably damaging	1.00
R8381:Zfp729b	UTSW	13	67591498	missense	possibly damaging	0.77
R8941:Zfp729b	UTSW	13	67593099	missense	possibly damaging	0.95
R9014:Zfp729b	UTSW	13	67592155	missense	probably damaging	1.00
R9091:Zfp729b	UTSW	13	67592361	missense	probably damaging	1.00
R9168:Zfp729b	UTSW	13	67593823	nonsense	probably null
R9270:Zfp729b	UTSW	13	67592361	missense	probably damaging	1.00
R9390:Zfp729b	UTSW	13	67591063	missense	probably benign	0.00
R9390:Zfp729b	UTSW	13	67593895	missense	possibly damaging	0.95
R9442:Zfp729b	UTSW	13	67591218	missense	probably benign	0.25
R9620:Zfp729b	UTSW	13	67591668	missense	probably damaging	1.00
X0023:Zfp729b	UTSW	13	67592459	missense	possibly damaging	0.95
X0028:Zfp729b	UTSW	13	67592194	missense	probably damaging	1.00
Z1088:Zfp729b	UTSW	13	67593070	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGGAGAACAGAAGGCCTTTC -3'
(R):5'- TCCATCAAGACTTTCCACGC -3'

Sequencing Primer
(F):5'- TAATGGAAGGCCTTGTCACAC -3'
(R):5'- GACTTTCCACGCATAAGAGAATTC -3'

Posted On

2020-10-20