Mutagenetix > Incidental Mutations

Incidental Mutation 'R2229:Zfp729b'

239624

Institutional Source

Beutler Lab

Gene Symbol

Zfp729b

Ensembl Gene

ENSMUSG00000058093

Gene Name

zinc finger protein 729b

Synonyms

AA987161

MMRRC Submission

040230-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R2229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67589439-67609707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67595265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 60 (I60M)

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: I60M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: I60M

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

noncoding transcript
Transcript: ENSMUST00000133177

Predicted Effect

probably damaging
Transcript: ENSMUST00000138725
AA Change: I70M

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093
AA Change: I70M

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

noncoding transcript
Transcript: ENSMUST00000223599

Predicted Effect

probably benign
Transcript: ENSMUST00000224814
AA Change: I70M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225627
AA Change: I70M

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 40,680,365	I291L	probably benign	Het
Adcy8	C	A	15: 64,822,207	R407L	possibly damaging	Het
Adgb	A	T	10: 10,436,051	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,752,403	S350N	probably benign	Het
Agbl1	A	G	7: 76,433,378	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,583,186	T605R	probably damaging	Het
Arfip1	A	T	3: 84,547,973	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759		probably null	Het
Banp	G	A	8: 121,978,685	S98N	probably damaging	Het
Btnl9	T	C	11: 49,169,118	D601G	probably damaging	Het
C9	T	C	15: 6,445,420	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,685,804	V744A	probably damaging	Het
Catsper3	A	G	13: 55,808,054	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856		probably null	Het
Cdc5l	A	G	17: 45,407,846	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526		probably benign	Het
Eml4	C	T	17: 83,451,056	P502S	probably benign	Het
Fsip1	T	C	2: 118,222,444	E367G	probably benign	Het
Gja3	T	C	14: 57,036,714	D67G	probably damaging	Het
Gm4894	T	C	9: 49,274,190		probably benign	Het
Gm7853	A	G	14: 36,089,527		noncoding transcript	Het
Gmps	T	G	3: 64,014,263	Y562*	probably null	Het
Golga2	C	A	2: 32,306,465	P976T	probably benign	Het
Gpr182	T	A	10: 127,750,141	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,626,795	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,695,267	T516A	probably benign	Het
Hist2h2ab	T	C	3: 96,220,106	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,619,230	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496	S920P	probably damaging	Het
Kif3c	T	A	12: 3,366,671	S231T	probably benign	Het
Kpna7	A	T	5: 144,989,697	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,904,392		probably benign	Het
Lrrc69	T	C	4: 14,773,694	S121G	probably benign	Het
Mppe1	A	G	18: 67,228,011		probably null	Het
Muc5b	T	A	7: 141,861,644	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,308,348	N1893K	probably damaging	Het
Myo7a	T	C	7: 98,054,910	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934		probably null	Het
Nek5	A	T	8: 22,113,632	N151K	possibly damaging	Het
Nup93	C	T	8: 94,304,191	T305I	probably benign	Het
Oca2	T	A	7: 56,357,155	H663Q	probably benign	Het
Optn	T	A	2: 5,024,117	H525L	probably damaging	Het
Pdzph1	A	G	17: 58,932,412		probably benign	Het
Pikfyve	A	G	1: 65,267,855	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,430,329	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,698	R224L	probably benign	Het
Prpf19	A	G	19: 10,897,598	T39A	probably benign	Het
Pwwp2b	T	C	7: 139,255,188	C182R	probably damaging	Het
Rcan3	T	C	4: 135,425,377	D11G	probably benign	Het
Rgsl1	C	A	1: 153,822,358	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,851,020	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,809,299	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399	V334A	probably benign	Het
Smarcc2	A	G	10: 128,488,341		probably benign	Het
Spata18	A	T	5: 73,666,901	I156L	possibly damaging	Het
Spats2	T	C	15: 99,174,453		probably null	Het
Tas2r104	G	A	6: 131,685,132	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,832,177		probably benign	Het
Tex15	C	A	8: 33,571,237	H232N	probably benign	Het
Tg	A	T	15: 66,674,011	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776		probably null	Het
Trim25	T	A	11: 89,016,621	V602E	probably damaging	Het
Ttll9	A	G	2: 152,983,063	E54G	probably damaging	Het
Ttn	T	C	2: 76,729,324	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,830,881	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Usp13	A	G	3: 32,917,551	I727V	probably benign	Het
Vmn2r67	T	A	7: 85,152,042	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,167,392	I220L	probably benign	Het
Wnk4	T	A	11: 101,275,641		probably benign	Het
Wwp1	A	T	4: 19,641,745	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,690,213	I540T	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
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
R8402:Zfp729b	UTSW	13	67592577	missense	probably damaging	1.00
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
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'- TGTCCTGGAGAACACAAGTTAATC -3'
(R):5'- GTGCCCATCAGAAAACATGG -3'

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

Posted On

2014-10-15