Mutagenetix > Incidental Mutation

Incidental Mutation 'R7547:Zranb2'

584246

Institutional Source

Beutler Lab

Gene Symbol

Zranb2

Ensembl Gene

ENSMUSG00000028180

Gene Name

zinc finger, RAN-binding domain containing 2

Synonyms

Zfp265, Zis, Znf265

MMRRC Submission

045618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157239797-157254047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157246806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 165 (S165P)

Ref Sequence

ENSEMBL: ENSMUSP00000101673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029831] [ENSMUST00000106057] [ENSMUST00000106058] [ENSMUST00000184802] [ENSMUST00000198915]

AlphaFold

Q9R020

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029831
AA Change: S128P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029831
Gene: ENSMUSG00000028180
AA Change: S128P

Domain	Start	End	E-Value	Type
ZnF_RBZ	11	35	1.02e-2	SMART
ZnF_RBZ	36	54	2.09e-1	SMART
low complexity region	70	82	N/A	INTRINSIC
low complexity region	108	145	N/A	INTRINSIC
low complexity region	156	293	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106057
AA Change: S165P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101672
Gene: ENSMUSG00000028180
AA Change: S165P

Domain	Start	End	E-Value	Type
ZnF_RBZ	11	37	1.24e-6	SMART
ZnF_RBZ	77	101	3.11e-7	SMART
low complexity region	117	129	N/A	INTRINSIC
low complexity region	155	192	N/A	INTRINSIC
low complexity region	203	312	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106058
AA Change: S165P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101673
Gene: ENSMUSG00000028180
AA Change: S165P

Domain	Start	End	E-Value	Type
ZnF_RBZ	11	37	1.24e-6	SMART
ZnF_RBZ	77	101	3.11e-7	SMART
low complexity region	117	129	N/A	INTRINSIC
low complexity region	155	192	N/A	INTRINSIC
low complexity region	203	340	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000101678
Gene: ENSMUSG00000028180
AA Change: S58P

Domain	Start	End	E-Value	Type
ZnF_RBZ	11	37	8.79e-7	SMART
ZnF_RBZ	67	91	3.11e-7	SMART
low complexity region	107	119	N/A	INTRINSIC
low complexity region	145	182	N/A	INTRINSIC
low complexity region	193	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184802

Predicted Effect

probably benign
Transcript: ENSMUST00000198915

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,109,269 (GRCm39)	D146E	probably benign	Het
Adgrl1	C	T	8: 84,665,513 (GRCm39)	A1400V	probably benign	Het
Ank2	A	G	3: 126,738,852 (GRCm39)	V2344A	unknown	Het
Anxa2r2	A	T	13: 120,488,457 (GRCm39)	F31I	probably damaging	Het
Aplnr	A	T	2: 84,967,521 (GRCm39)	D182V	probably damaging	Het
Asb4	C	T	6: 5,398,350 (GRCm39)	P105L	probably damaging	Het
Ate1	C	A	7: 130,106,539 (GRCm39)	R274I	probably benign	Het
Ccdc43	A	G	11: 102,582,948 (GRCm39)	V92A	probably benign	Het
Cfap69	T	A	5: 5,654,290 (GRCm39)	N548I	possibly damaging	Het
Clpb	A	G	7: 101,313,503 (GRCm39)		probably null	Het
Ctnnal1	G	A	4: 56,817,032 (GRCm39)	R597C	probably damaging	Het
Dchs2	A	G	3: 83,263,434 (GRCm39)	K3234R	probably damaging	Het
Dnah7a	T	A	1: 53,702,996 (GRCm39)	K151N	probably benign	Het
Dnah7b	T	A	1: 46,253,573 (GRCm39)	I1826K	possibly damaging	Het
Dnttip1	A	G	2: 164,609,799 (GRCm39)	K289E	probably benign	Het
Eppk1	G	T	15: 75,991,740 (GRCm39)	Q1714K	probably benign	Het
Exoc4	A	G	6: 33,816,056 (GRCm39)	D674G	possibly damaging	Het
Galnt7	A	T	8: 58,036,996 (GRCm39)	V131D	possibly damaging	Het
Glg1	C	T	8: 111,914,393 (GRCm39)	V464M	possibly damaging	Het
Hlcs	G	T	16: 94,032,031 (GRCm39)	S444*	probably null	Het
Larp1	G	T	11: 57,943,405 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,335,410 (GRCm39)	Y4386C	probably damaging	Het
Mapt	A	G	11: 104,213,138 (GRCm39)		probably null	Het
Neb	C	T	2: 52,172,637 (GRCm39)	V1557I	probably benign	Het
Nid2	A	G	14: 19,847,345 (GRCm39)	T953A	probably benign	Het
Or5b105	T	C	19: 13,080,407 (GRCm39)	D87G	not run	Het
Pax3	G	A	1: 78,099,231 (GRCm39)	Q319*	probably null	Het
Ppp2r1b	T	A	9: 50,773,762 (GRCm39)	S212R	probably benign	Het
Prss29	T	C	17: 25,539,896 (GRCm39)	L98P	probably damaging	Het
Ptch2	T	G	4: 116,967,161 (GRCm39)	L646R	probably damaging	Het
Rasa2	T	A	9: 96,493,474 (GRCm39)	E70V	probably damaging	Het
Serf2	A	G	2: 121,281,256 (GRCm39)	N65S	possibly damaging	Het
Serpinb6b	G	A	13: 33,158,907 (GRCm39)	G155D	probably benign	Het
Serpinb6c	A	G	13: 34,077,875 (GRCm39)	I165T	possibly damaging	Het
Skint5	A	T	4: 113,483,785 (GRCm39)	V949E	unknown	Het
Slc11a2	A	G	15: 100,295,651 (GRCm39)	I490T	possibly damaging	Het
Slx4	T	C	16: 3,803,436 (GRCm39)	D1126G	probably benign	Het
Tent4a	G	T	13: 69,681,823 (GRCm39)	P160Q	probably benign	Het
Tln1	G	T	4: 43,545,206 (GRCm39)	A1003E	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,072 (GRCm39)	V64A	probably damaging	Het
U2surp	T	C	9: 95,361,402 (GRCm39)	E620G	possibly damaging	Het
Usp3	T	C	9: 66,449,906 (GRCm39)	N179S	possibly damaging	Het
Vps13d	T	C	4: 144,784,108 (GRCm39)	T3889A		Het
Vps35	C	T	8: 85,989,999 (GRCm39)	V670M	probably damaging	Het
Zfp626	T	C	7: 27,517,828 (GRCm39)	S270P	possibly damaging	Het
Zfp955a	C	T	17: 33,461,797 (GRCm39)	V112M	probably benign	Het

Other mutations in Zranb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Zranb2	APN	3	157,252,328 (GRCm39)	unclassified	probably benign
IGL01528:Zranb2	APN	3	157,250,602 (GRCm39)	unclassified	probably benign
IGL03008:Zranb2	APN	3	157,252,302 (GRCm39)	splice site	probably null
R0528:Zranb2	UTSW	3	157,240,096 (GRCm39)	missense	probably benign	0.26
R0659:Zranb2	UTSW	3	157,247,400 (GRCm39)	missense	probably benign	0.23
R1170:Zranb2	UTSW	3	157,247,502 (GRCm39)	utr 3 prime	probably benign
R1673:Zranb2	UTSW	3	157,243,277 (GRCm39)	missense	probably damaging	1.00
R1885:Zranb2	UTSW	3	157,248,793 (GRCm39)	critical splice acceptor site	probably null
R4127:Zranb2	UTSW	3	157,243,227 (GRCm39)	nonsense	probably null
R4610:Zranb2	UTSW	3	157,247,521 (GRCm39)	splice site	probably benign
R4981:Zranb2	UTSW	3	157,252,378 (GRCm39)	unclassified	probably benign
R5053:Zranb2	UTSW	3	157,246,796 (GRCm39)	missense	probably damaging	0.96
R5742:Zranb2	UTSW	3	157,246,340 (GRCm39)	nonsense	probably null
R5873:Zranb2	UTSW	3	157,242,020 (GRCm39)	nonsense	probably null
R6086:Zranb2	UTSW	3	157,248,883 (GRCm39)	critical splice donor site	probably null
R7015:Zranb2	UTSW	3	157,242,370 (GRCm39)	critical splice acceptor site	probably null
R7579:Zranb2	UTSW	3	157,246,309 (GRCm39)	missense	probably damaging	1.00
R8119:Zranb2	UTSW	3	157,241,969 (GRCm39)	critical splice acceptor site	probably null
R8237:Zranb2	UTSW	3	157,250,677 (GRCm39)	missense	probably null
R8296:Zranb2	UTSW	3	157,247,412 (GRCm39)	missense	unknown
R8345:Zranb2	UTSW	3	157,251,731 (GRCm39)	missense	unknown
R8414:Zranb2	UTSW	3	157,252,312 (GRCm39)	missense	unknown
R8478:Zranb2	UTSW	3	157,251,745 (GRCm39)	makesense	probably null
R8768:Zranb2	UTSW	3	157,247,327 (GRCm39)	splice site	probably benign
R9021:Zranb2	UTSW	3	157,250,720 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTGCTTTTCCACAAGGGTAC -3'
(R):5'- GGTTCTGTGCACCTAACACCAC -3'

Sequencing Primer
(F):5'- GCTTTTCCACAAGGGTACAAATAGGC -3'
(R):5'- TGTGCACCTAACACCACAATGTG -3'

Posted On

2019-10-17