Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Zranb3'

655089

Institutional Source

Beutler Lab

Gene Symbol

Zranb3

Ensembl Gene

ENSMUSG00000036086

Gene Name

zinc finger, RAN-binding domain containing 3

Synonyms

4933425L19Rik

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127881921-128030784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 127920647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 426 (Q426K)

Ref Sequence

ENSEMBL: ENSMUSP00000083806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086614] [ENSMUST00000112538]

AlphaFold

Q6NZP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000086614
AA Change: Q426K

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

SMART Domains

Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: Q426K

Domain	Start	End	E-Value	Type
DEXDc	33	214	3.37e-19	SMART
HELICc	352	435	3.79e-13	SMART
ZnF_RBZ	619	643	6.93e-5	SMART
HNHc	985	1036	5.64e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112538
AA Change: Q426K

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

SMART Domains

Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: Q426K

Domain	Start	End	E-Value	Type
Pfam:SNF2_N	40	98	6.6e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chkb	A	T	15: 89,312,376 (GRCm39)	V213E	possibly damaging	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah14	A	C	1: 181,633,577 (GRCm39)	H4P		Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or4c12b	G	T	2: 89,647,494 (GRCm39)	V269F	probably damaging	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het

Other mutations in Zranb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Zranb3	APN	1	127,943,877 (GRCm39)	missense	probably benign	0.01
IGL00818:Zranb3	APN	1	127,960,604 (GRCm39)	missense	probably damaging	1.00
IGL01360:Zranb3	APN	1	127,887,622 (GRCm39)	nonsense	probably null
IGL01704:Zranb3	APN	1	127,895,676 (GRCm39)	missense	possibly damaging	0.93
IGL02131:Zranb3	APN	1	127,920,688 (GRCm39)	missense	probably damaging	1.00
IGL02466:Zranb3	APN	1	127,943,829 (GRCm39)	missense	probably benign	0.08
IGL02825:Zranb3	APN	1	127,887,489 (GRCm39)	missense	probably benign	0.13
IGL02836:Zranb3	APN	1	127,888,562 (GRCm39)	missense	probably benign	0.00
R0088:Zranb3	UTSW	1	127,904,199 (GRCm39)	missense	probably benign
R0279:Zranb3	UTSW	1	127,891,510 (GRCm39)	missense	probably benign	0.01
R0423:Zranb3	UTSW	1	128,019,607 (GRCm39)	missense	probably damaging	1.00
R0499:Zranb3	UTSW	1	127,882,817 (GRCm39)	splice site	probably null
R0562:Zranb3	UTSW	1	127,964,295 (GRCm39)	missense	probably benign	0.04
R0972:Zranb3	UTSW	1	127,884,383 (GRCm39)	missense	probably damaging	1.00
R1480:Zranb3	UTSW	1	128,019,599 (GRCm39)	missense	probably damaging	1.00
R1552:Zranb3	UTSW	1	127,888,488 (GRCm39)	splice site	probably benign
R1704:Zranb3	UTSW	1	128,019,740 (GRCm39)	start codon destroyed	probably null	0.22
R1817:Zranb3	UTSW	1	127,945,293 (GRCm39)	critical splice donor site	probably null
R1818:Zranb3	UTSW	1	127,945,293 (GRCm39)	critical splice donor site	probably null
R1819:Zranb3	UTSW	1	127,945,293 (GRCm39)	critical splice donor site	probably null
R1951:Zranb3	UTSW	1	127,927,136 (GRCm39)	missense	probably damaging	1.00
R1953:Zranb3	UTSW	1	127,927,136 (GRCm39)	missense	probably damaging	1.00
R1988:Zranb3	UTSW	1	127,887,480 (GRCm39)	missense	probably benign
R2011:Zranb3	UTSW	1	128,019,638 (GRCm39)	missense	probably benign	0.00
R3159:Zranb3	UTSW	1	127,900,686 (GRCm39)	missense	probably benign
R4179:Zranb3	UTSW	1	127,888,601 (GRCm39)	missense	possibly damaging	0.88
R4281:Zranb3	UTSW	1	127,891,614 (GRCm39)	missense	possibly damaging	0.69
R4400:Zranb3	UTSW	1	127,884,392 (GRCm39)	missense	possibly damaging	0.87
R5236:Zranb3	UTSW	1	127,968,726 (GRCm39)	missense	probably damaging	1.00
R5330:Zranb3	UTSW	1	127,887,457 (GRCm39)	missense	probably damaging	0.99
R5719:Zranb3	UTSW	1	127,891,613 (GRCm39)	missense	probably benign	0.00
R6125:Zranb3	UTSW	1	127,887,482 (GRCm39)	missense	probably benign
R6220:Zranb3	UTSW	1	127,927,141 (GRCm39)	missense	probably benign	0.44
R6414:Zranb3	UTSW	1	127,968,694 (GRCm39)	missense	probably benign	0.08
R6751:Zranb3	UTSW	1	127,887,556 (GRCm39)	missense	probably benign
R7229:Zranb3	UTSW	1	127,968,630 (GRCm39)	missense	probably benign	0.00
R7419:Zranb3	UTSW	1	127,891,588 (GRCm39)	missense	possibly damaging	0.86
R7537:Zranb3	UTSW	1	127,960,584 (GRCm39)	critical splice donor site	probably null
R7771:Zranb3	UTSW	1	127,960,605 (GRCm39)	missense	probably damaging	1.00
R7980:Zranb3	UTSW	1	128,030,671 (GRCm39)	unclassified	probably benign
R8152:Zranb3	UTSW	1	127,882,732 (GRCm39)	missense	probably damaging	1.00
R8370:Zranb3	UTSW	1	127,895,670 (GRCm39)	missense	probably benign	0.00
R8816:Zranb3	UTSW	1	127,964,347 (GRCm39)	missense	possibly damaging	0.95
R8969:Zranb3	UTSW	1	127,888,588 (GRCm39)	missense	possibly damaging	0.80
R9369:Zranb3	UTSW	1	127,887,828 (GRCm39)	missense	probably benign	0.00
R9468:Zranb3	UTSW	1	127,891,496 (GRCm39)	critical splice donor site	probably null
Z1176:Zranb3	UTSW	1	127,964,218 (GRCm39)	missense	probably benign	0.25
Z1176:Zranb3	UTSW	1	127,892,885 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AATCTCTACTGTGTTATCTTGGTAGAC -3'
(R):5'- CTCTTCTTATAATGTGTTTAGGAAGGC -3'

Sequencing Primer
(F):5'- TTTGCTTGCACACATCAAAACTCAG -3'
(R):5'- AAGGCTTTCTTACATGGGAGTCTC -3'

Posted On

2020-10-20