Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Zfp729b'

685864

Institutional Source

Beutler Lab

Gene Symbol

Zfp729b

Ensembl Gene

ENSMUSG00000058093

Gene Name

zinc finger protein 729b

Synonyms

AA987161

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67737558-67757767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67740274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 664 (Y664N)

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: Y664N

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

SMART Domains

Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: Y664N

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 benign
Transcript: ENSMUST00000224814

Predicted Effect

probably benign
Transcript: ENSMUST00000225627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,857 (GRCm39)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,504,958 (GRCm39)	N495I	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 43,859,098 (GRCm39)	R39C	probably benign	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tab2	G	A	10: 7,794,920 (GRCm39)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het

Other mutations in Zfp729b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02083:Zfp729b	APN	13	67,743,349 (GRCm39)	missense	probably benign	0.09
IGL02852:Zfp729b	APN	13	67,740,942 (GRCm39)	missense	probably damaging	0.99
PIT4449001:Zfp729b	UTSW	13	67,739,542 (GRCm39)	missense	probably benign	0.01
R0238:Zfp729b	UTSW	13	67,740,022 (GRCm39)	missense	probably damaging	0.98
R0238:Zfp729b	UTSW	13	67,740,022 (GRCm39)	missense	probably damaging	0.98
R0450:Zfp729b	UTSW	13	67,739,253 (GRCm39)	missense	probably benign
R0510:Zfp729b	UTSW	13	67,739,253 (GRCm39)	missense	probably benign
R1122:Zfp729b	UTSW	13	67,743,403 (GRCm39)	missense	possibly damaging	0.75
R1400:Zfp729b	UTSW	13	67,740,913 (GRCm39)	missense	possibly damaging	0.63
R1915:Zfp729b	UTSW	13	67,741,339 (GRCm39)	missense	probably damaging	1.00
R1929:Zfp729b	UTSW	13	67,740,352 (GRCm39)	missense	probably damaging	1.00
R2229:Zfp729b	UTSW	13	67,743,384 (GRCm39)	missense	probably damaging	0.99
R2270:Zfp729b	UTSW	13	67,740,352 (GRCm39)	missense	probably damaging	1.00
R2271:Zfp729b	UTSW	13	67,740,352 (GRCm39)	missense	probably damaging	1.00
R2344:Zfp729b	UTSW	13	67,740,352 (GRCm39)	missense	probably damaging	1.00
R2377:Zfp729b	UTSW	13	67,739,820 (GRCm39)	missense	possibly damaging	0.70
R2930:Zfp729b	UTSW	13	67,739,973 (GRCm39)	missense	probably benign
R3053:Zfp729b	UTSW	13	67,741,585 (GRCm39)	missense	probably damaging	1.00
R3404:Zfp729b	UTSW	13	67,739,283 (GRCm39)	missense	probably damaging	0.98
R4118:Zfp729b	UTSW	13	67,740,829 (GRCm39)	missense	possibly damaging	0.91
R4947:Zfp729b	UTSW	13	67,744,791 (GRCm39)	missense	probably damaging	1.00
R5408:Zfp729b	UTSW	13	67,739,563 (GRCm39)	missense	probably benign	0.18
R5511:Zfp729b	UTSW	13	67,740,499 (GRCm39)	missense	probably damaging	1.00
R5542:Zfp729b	UTSW	13	67,739,140 (GRCm39)	missense	probably benign
R5908:Zfp729b	UTSW	13	67,739,374 (GRCm39)	missense	probably benign	0.00
R5977:Zfp729b	UTSW	13	67,739,740 (GRCm39)	missense	probably benign	0.03
R5996:Zfp729b	UTSW	13	67,741,977 (GRCm39)	missense	probably benign	0.18
R7086:Zfp729b	UTSW	13	67,741,056 (GRCm39)	missense	probably damaging	0.99
R7146:Zfp729b	UTSW	13	67,741,495 (GRCm39)	missense	probably damaging	1.00
R7217:Zfp729b	UTSW	13	67,743,367 (GRCm39)	missense	probably damaging	0.96
R7332:Zfp729b	UTSW	13	67,757,755 (GRCm39)	splice site	probably null
R7472:Zfp729b	UTSW	13	67,742,002 (GRCm39)	missense	probably benign	0.00
R7615:Zfp729b	UTSW	13	67,739,617 (GRCm39)	missense	possibly damaging	0.77
R7639:Zfp729b	UTSW	13	67,739,971 (GRCm39)	missense	probably benign	0.02
R7652:Zfp729b	UTSW	13	67,739,371 (GRCm39)	missense	probably benign	0.00
R7738:Zfp729b	UTSW	13	67,740,194 (GRCm39)	missense	probably benign	0.00
R8137:Zfp729b	UTSW	13	67,740,861 (GRCm39)	missense	probably damaging	1.00
R8381:Zfp729b	UTSW	13	67,739,617 (GRCm39)	missense	possibly damaging	0.77
R8402:Zfp729b	UTSW	13	67,740,696 (GRCm39)	missense	probably damaging	1.00
R8941:Zfp729b	UTSW	13	67,741,218 (GRCm39)	missense	possibly damaging	0.95
R9091:Zfp729b	UTSW	13	67,740,480 (GRCm39)	missense	probably damaging	1.00
R9168:Zfp729b	UTSW	13	67,741,942 (GRCm39)	nonsense	probably null
R9270:Zfp729b	UTSW	13	67,740,480 (GRCm39)	missense	probably damaging	1.00
R9390:Zfp729b	UTSW	13	67,742,014 (GRCm39)	missense	possibly damaging	0.95
R9390:Zfp729b	UTSW	13	67,739,182 (GRCm39)	missense	probably benign	0.00
R9442:Zfp729b	UTSW	13	67,739,337 (GRCm39)	missense	probably benign	0.25
R9620:Zfp729b	UTSW	13	67,739,787 (GRCm39)	missense	probably damaging	1.00
X0023:Zfp729b	UTSW	13	67,740,578 (GRCm39)	missense	possibly damaging	0.95
X0028:Zfp729b	UTSW	13	67,740,313 (GRCm39)	missense	probably damaging	1.00
Z1088:Zfp729b	UTSW	13	67,741,189 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GAAGGCCTTCCCACATACATCA -3'
(R):5'- GGCAAGGCCTTCCATTATCCA -3'

Sequencing Primer
(F):5'- TCCCACATACATCACAATTGTATGG -3'
(R):5'- GTGACATATGTGACCAGGCATTTC -3'

Posted On

2021-10-11