Incidental Mutation 'R4127:Zranb2'
| ID |
315429 |
| 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 |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4127 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
157239797-157254047 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 157243227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 74
(C74*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029831]
[ENSMUST00000106057]
[ENSMUST00000106058]
[ENSMUST00000184802]
[ENSMUST00000198915]
|
| AlphaFold |
Q9R020 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029831
AA Change: C37*
|
| SMART Domains |
Protein: ENSMUSP00000029831
Gene: ENSMUSG00000028180
AA Change: C37*
| 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 |
probably null
Transcript: ENSMUST00000106057
AA Change: C74*
|
| SMART Domains |
Protein: ENSMUSP00000101672
Gene: ENSMUSG00000028180
AA Change: C74*
| 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 |
probably null
Transcript: ENSMUST00000106058
AA Change: C74*
|
| SMART Domains |
Protein: ENSMUSP00000101673
Gene: ENSMUSG00000028180
AA Change: C74*
| 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 |
probably benign
Transcript: ENSMUST00000106063
|
| SMART Domains |
Protein: ENSMUSP00000101678
Gene: ENSMUSG00000028180
| 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 |
noncoding transcript
Transcript: ENSMUST00000152882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184802
AA Change: A38E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198915
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Xcr1 |
A |
C |
9: 123,685,561 (GRCm39) |
V67G |
probably damaging |
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 |
|
|
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 |
|
|
R7547:Zranb2
|
UTSW |
3 |
157,246,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- TTCCCCTCAGTAGCAGAATTTCTAG -3'
(R):5'- GCTAGTGTAAGGCTGCCTAG -3'
Sequencing Primer
(F):5'- CCTCAGTAGCAGAATTTCTAGTTATG -3'
(R):5'- ATATCGAGTTTGAGGCCATCCAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation