Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R2229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67737558-67757767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67743384 bp (GRCm39)

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: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,718,772 (GRCm39)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,707,180 (GRCm39)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp13	A	G	3: 32,971,700 (GRCm39)	I727V	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	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
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
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'- TGTCCTGGAGAACACAAGTTAATC -3'
(R):5'- GTGCCCATCAGAAAACATGG -3'

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

Posted On

2014-10-15