Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Zfp729b'

590939

Institutional Source

Beutler Lab

Gene Symbol

Zfp729b

Ensembl Gene

ENSMUSG00000058093

Gene Name

zinc finger protein 729b

Synonyms

AA987161

MMRRC Submission

045729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67737558-67757767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67739371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 965 (T965A)

Ref Sequence

ENSEMBL: ENSMUSP00000012873 (fasta)

Gene Model

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

AlphaFold

Q80VN4

Predicted Effect

probably benign
Transcript: ENSMUST00000012873
AA Change: T965A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: T965A

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

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,253,675 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Anxa2r2	A	T	13: 120,488,529 (GRCm39)	S7T	possibly damaging	Het
Aph1b	T	C	9: 66,691,823 (GRCm39)	T195A	probably benign	Het
Apoe	G	T	7: 19,430,535 (GRCm39)	R236S	possibly damaging	Het
Arap3	G	T	18: 38,111,505 (GRCm39)	T1137K	probably damaging	Het
Arhgap45	C	T	10: 79,864,672 (GRCm39)	A908V	probably benign	Het
Atp13a1	T	C	8: 70,258,209 (GRCm39)	C965R	probably damaging	Het
C7	A	G	15: 5,041,587 (GRCm39)	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Ddah2	C	A	17: 35,280,026 (GRCm39)	R173S	possibly damaging	Het
Dnajc11	T	C	4: 152,058,682 (GRCm39)	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483 (GRCm39)	K302R	probably benign	Het
Dnajc6	A	T	4: 101,463,874 (GRCm39)	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Ebf2	G	T	14: 67,628,016 (GRCm39)		probably null	Het
Epx	A	G	11: 87,766,160 (GRCm39)		probably null	Het
Eqtn	T	C	4: 94,816,574 (GRCm39)	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,773,884 (GRCm39)	N21S	probably benign	Het
Fasn	G	A	11: 120,707,154 (GRCm39)	S857F	probably damaging	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Gas8	A	G	8: 124,253,275 (GRCm39)	I208V	probably benign	Het
Gm3269	T	C	14: 16,026,209 (GRCm39)	I88T	probably benign	Het
Gm8005	C	A	14: 42,258,919 (GRCm39)	L136F		Het
Grid2ip	C	A	5: 143,368,393 (GRCm39)	P743Q	probably damaging	Het
H2-T15	A	T	17: 36,367,675 (GRCm39)	V221D	probably damaging	Het
Hbs1l	C	T	10: 21,240,659 (GRCm39)	T626I	probably benign	Het
Hdac3	T	A	18: 38,087,972 (GRCm39)		probably benign	Het
Hnrnpab	T	C	11: 51,496,400 (GRCm39)	Y94C	probably damaging	Het
Homer2	T	C	7: 81,299,414 (GRCm39)	D17G	probably damaging	Het
Ikbke	C	T	1: 131,199,569 (GRCm39)	R308Q	probably damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,261,146 (GRCm39)		probably benign	Het
Klk1b9	A	T	7: 43,445,514 (GRCm39)	T235S	probably benign	Het
Kmt2c	T	C	5: 25,520,717 (GRCm39)	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Krtap4-6	T	C	11: 99,556,440 (GRCm39)	I96V	unknown	Het
Lef1	A	C	3: 130,994,003 (GRCm39)	R354S	probably damaging	Het
Lrp6	A	T	6: 134,488,208 (GRCm39)	L296*	probably null	Het
Maml2	T	C	9: 13,532,945 (GRCm39)	Y720H		Het
Mmrn1	A	G	6: 60,954,490 (GRCm39)	N924D	probably benign	Het
Myh7b	A	G	2: 155,474,156 (GRCm39)	K1624E	probably damaging	Het
Nos3	T	A	5: 24,588,610 (GRCm39)	V1112D	probably damaging	Het
Or2y14	T	C	11: 49,404,512 (GRCm39)	F16L	probably damaging	Het
Or4c111	C	T	2: 88,843,893 (GRCm39)	V172I	probably benign	Het
Or5an1b	C	A	19: 12,299,651 (GRCm39)	C180F	probably damaging	Het
Or5w13	A	G	2: 87,523,704 (GRCm39)	I174T	probably damaging	Het
Or6c70	A	T	10: 129,710,346 (GRCm39)	N93K	probably damaging	Het
Phospho1	T	C	11: 95,721,645 (GRCm39)	L105S	probably damaging	Het
Prss35	T	A	9: 86,638,023 (GRCm39)	N264K	probably benign	Het
Ptpn13	A	G	5: 103,677,578 (GRCm39)	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123 (GRCm39)	T64S	possibly damaging	Het
Rft1	A	G	14: 30,399,773 (GRCm39)	Q319R	probably benign	Het
Rgs7	T	A	1: 174,921,396 (GRCm39)	M220L	probably benign	Het
Rnf13	A	G	3: 57,671,772 (GRCm39)	N28S	probably benign	Het
Setd3	A	T	12: 108,078,548 (GRCm39)	I311N	probably damaging	Het
Setd5	G	A	6: 113,098,725 (GRCm39)	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,733,143 (GRCm39)		probably null	Het
Slc26a9	A	T	1: 131,691,634 (GRCm39)	T626S	probably benign	Het
Stambp	A	T	6: 83,540,910 (GRCm39)		probably null	Het
Stom	A	T	2: 35,206,041 (GRCm39)	N229K	probably benign	Het
Tlr1	A	T	5: 65,084,130 (GRCm39)	L149*	probably null	Het
Trpc3	C	A	3: 36,692,677 (GRCm39)	V772F	probably benign	Het
Ube3a	A	G	7: 58,893,102 (GRCm39)		probably benign	Het
Ugt2b35	T	A	5: 87,149,369 (GRCm39)	F207I	probably damaging	Het
Usp53	A	T	3: 122,746,884 (GRCm39)	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,793,832 (GRCm39)	S59A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Wnt3	A	G	11: 103,703,290 (GRCm39)	T258A	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
R9014:Zfp729b	UTSW	13	67,740,274 (GRCm39)	missense	probably damaging	1.00
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'- GGCCCGTCTACATACTTCAG -3'
(R):5'- TGTAGCAAGACCTTCCATTATCC -3'

Sequencing Primer
(F):5'- CTGGGAATTAAACTCAGGACCTCTG -3'
(R):5'- CAAGACCTTCCATTATCCATCATTAC -3'

Posted On

2019-10-24