Incidental Mutation 'R4281:Zranb3'
| ID |
322880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb3
|
| Ensembl Gene |
ENSMUSG00000036086 |
| Gene Name |
zinc finger, RAN-binding domain containing 3 |
| Synonyms |
4933425L19Rik |
| MMRRC Submission |
041649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R4281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127881921-128030784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127891614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 787
(S787R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086614]
[ENSMUST00000112538]
|
| AlphaFold |
Q6NZP1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086614
AA Change: S787R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: S787R
| 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 |
possibly damaging
Transcript: ENSMUST00000112538
AA Change: S787R
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: S787R
| 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: ENSMUST00000186230
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
92% (44/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
| Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
| Or12j3 |
A |
G |
7: 139,953,385 (GRCm39) |
I46T |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
| Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
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 |
|
|
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 |
|
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'- TGCCTCAGATCTATAGAAACGGC -3'
(R):5'- GGCACTCTGGATTGAGATGG -3'
Sequencing Primer
(F):5'- TCAGATCTATAGAAACGGCCCTGG -3'
(R):5'- CACTCTGGATTGAGATGGACATAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation