Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Zranb3'

217258

Institutional Source

Beutler Lab

Gene Symbol

Zranb3

Ensembl Gene

ENSMUSG00000036086

Gene Name

zinc finger, RAN-binding domain containing 3

Synonyms

4933425L19Rik

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R1951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127881921-128030784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127927136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 343 (V343D)

Ref Sequence

ENSEMBL: ENSMUSP00000108157 (fasta)

Gene Model

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

AlphaFold

Q6NZP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000086614
AA Change: V343D

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

SMART Domains

Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: V343D

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

noncoding transcript
Transcript: ENSMUST00000097597

SMART Domains

Protein: ENSMUSP00000095204
Gene: ENSMUSG00000036086

Domain	Start	End	E-Value	Type
DEXDc	33	214	3.37e-19	SMART
HELICc	352	435	3.79e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112538
AA Change: V343D

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

SMART Domains

Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: V343D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131732

Meta Mutation Damage Score

0.9460

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably 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
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
R8458:Zranb3	UTSW	1	127,920,647 (GRCm39)	missense	probably damaging	1.00
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'- GGGGTTTTGCCACTCTCAAG -3'
(R):5'- TGCGGGTTCCACTTTAGTAGAC -3'

Sequencing Primer
(F):5'- TCTCAAGTGCTATCTCCAGTAACAGG -3'
(R):5'- CCACTTTAGTAGACTGCCTAGAG -3'

Posted On

2014-08-01