Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Zfp729b'

481212

Institutional Source

Beutler Lab

Gene Symbol

Zfp729b

Ensembl Gene

ENSMUSG00000058093

Gene Name

zinc finger protein 729b

Synonyms

AA987161

MMRRC Submission

044159-MU

Accession Numbers

Essential gene?

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

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67737558-67757767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67739740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 842 (R842C)

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: R842C

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: R842C

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 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

noncoding transcript
Transcript: ENSMUST00000223599

Predicted Effect

probably benign
Transcript: ENSMUST00000224814

Predicted Effect

probably benign
Transcript: ENSMUST00000225627

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748 (GRCm39)	A588S	probably benign	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,731,418 (GRCm39)		probably null	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Marveld2	T	C	13: 100,748,197 (GRCm39)	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nek8	C	T	11: 78,058,651 (GRCm39)	V550M	probably benign	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc119b	A	G	5: 115,268,612 (GRCm39)	V91A	probably benign	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly 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
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
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'- TGGAAGGTCTTGCTACATAAGTC -3'
(R):5'- AAAGCCTACAGTTGTGAGATTTGTGG -3'

Sequencing Primer
(F):5'- GGTCTTGCTACATAAGTCACAATTG -3'
(R):5'- GGAAGGCCTTCGATTATCCATCAAG -3'

Posted On

2017-06-26