Incidental Mutation 'R0088:Zranb3'
| ID |
19991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb3
|
| Ensembl Gene |
ENSMUSG00000036086 |
| Gene Name |
zinc finger, RAN-binding domain containing 3 |
| Synonyms |
4933425L19Rik |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
127881921-128030784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127904199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 540
(D540G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086614]
[ENSMUST00000112538]
|
| AlphaFold |
Q6NZP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086614
AA Change: D540G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: D540G
| 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 benign
Transcript: ENSMUST00000112538
AA Change: D540G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: D540G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
40 |
98 |
6.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193744
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttyh2 |
G |
T |
11: 114,581,081 (GRCm39) |
G107C |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
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 |
|
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 |
|
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'- AATGTGCAGAAGCCACACTGCC -3'
(R):5'- TGCATGACTGTGTTCATTCCACTGAG -3'
Sequencing Primer
(F):5'- GGCTTGACCTCATGGACAAC -3'
(R):5'- ACTGTGTTCATTCCACTGAGTTATG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation