Incidental Mutation 'R5236:Zranb3'
| ID |
398337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb3
|
| Ensembl Gene |
ENSMUSG00000036086 |
| Gene Name |
zinc finger, RAN-binding domain containing 3 |
| Synonyms |
4933425L19Rik |
| MMRRC Submission |
044393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R5236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
127881921-128030784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127968726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 63
(L63P)
|
| 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: L63P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: L63P
| 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: L63P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: L63P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
40 |
98 |
6.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127393
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
A |
9: 101,820,120 (GRCm39) |
I180N |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,263,315 (GRCm39) |
C263S |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,978,048 (GRCm39) |
I56V |
possibly damaging |
Het |
| Arid4b |
A |
G |
13: 14,301,034 (GRCm39) |
|
probably null |
Het |
| Bin2 |
T |
C |
15: 100,560,415 (GRCm39) |
N49D |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,884,251 (GRCm39) |
T364A |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,014,258 (GRCm39) |
V172D |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,148,351 (GRCm39) |
L2670P |
probably damaging |
Het |
| Cmtm4 |
G |
C |
8: 105,084,378 (GRCm39) |
F105L |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,502,754 (GRCm39) |
Y153C |
probably benign |
Het |
| Ctsa |
G |
A |
2: 164,680,831 (GRCm39) |
V453M |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,635 (GRCm39) |
I303V |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,739,606 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,203,498 (GRCm39) |
R447C |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,603,070 (GRCm39) |
P362S |
probably damaging |
Het |
| Fbxw9 |
A |
G |
8: 85,792,974 (GRCm39) |
T407A |
probably damaging |
Het |
| Fyb2 |
T |
C |
4: 104,805,957 (GRCm39) |
S346P |
probably benign |
Het |
| Git2 |
T |
A |
5: 114,905,233 (GRCm39) |
I75L |
probably damaging |
Het |
| H2-DMa |
T |
A |
17: 34,356,913 (GRCm39) |
L137Q |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hrg |
T |
C |
16: 22,780,263 (GRCm39) |
|
probably benign |
Het |
| Htr7 |
A |
T |
19: 36,034,169 (GRCm39) |
I162N |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,983,770 (GRCm39) |
F117L |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,187,237 (GRCm39) |
Y392C |
probably damaging |
Het |
| Krt27 |
A |
C |
11: 99,241,641 (GRCm39) |
S87A |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,111,487 (GRCm39) |
V2246A |
probably benign |
Het |
| Lcn2 |
A |
T |
2: 32,275,973 (GRCm39) |
M119K |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,287,163 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
T |
C |
6: 134,488,227 (GRCm39) |
N290D |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,291,614 (GRCm39) |
E2517G |
probably damaging |
Het |
| Melk |
G |
A |
4: 44,344,959 (GRCm39) |
C363Y |
probably benign |
Het |
| Mettl22 |
T |
A |
16: 8,306,597 (GRCm39) |
L351* |
probably null |
Het |
| Mms22l |
A |
G |
4: 24,588,347 (GRCm39) |
Q953R |
probably benign |
Het |
| Ndufaf7 |
T |
C |
17: 79,247,060 (GRCm39) |
S107P |
probably benign |
Het |
| Opa3 |
A |
G |
7: 18,978,682 (GRCm39) |
Y49C |
probably damaging |
Het |
| Or2a12 |
A |
C |
6: 42,904,715 (GRCm39) |
R183S |
probably benign |
Het |
| Or9a2 |
C |
A |
6: 41,749,045 (GRCm39) |
G63C |
probably benign |
Het |
| Pabpn1 |
T |
A |
14: 55,132,399 (GRCm39) |
M145K |
possibly damaging |
Het |
| Plce1 |
A |
C |
19: 38,758,791 (GRCm39) |
M1982L |
probably benign |
Het |
| Ppcdc |
A |
C |
9: 57,321,937 (GRCm39) |
I201S |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,005 (GRCm39) |
D105V |
probably damaging |
Het |
| Rnf130 |
C |
T |
11: 49,986,805 (GRCm39) |
T383I |
probably damaging |
Het |
| Sgip1 |
T |
G |
4: 102,784,784 (GRCm39) |
|
probably null |
Het |
| Slc23a2 |
T |
A |
2: 131,917,504 (GRCm39) |
I245F |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,663,900 (GRCm39) |
Y308C |
probably benign |
Het |
| Slc7a15 |
C |
T |
12: 8,589,005 (GRCm39) |
V181M |
probably benign |
Het |
| Sprr2b |
G |
A |
3: 92,224,943 (GRCm39) |
C63Y |
unknown |
Het |
| Stpg2 |
A |
T |
3: 138,937,984 (GRCm39) |
Y181F |
probably damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,974 (GRCm39) |
T194S |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,259,362 (GRCm39) |
Q411L |
possibly damaging |
Het |
| Tln2 |
T |
A |
9: 67,273,205 (GRCm39) |
E427V |
probably damaging |
Het |
| Trpv4 |
A |
C |
5: 114,760,856 (GRCm39) |
V825G |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,754,596 (GRCm39) |
I1968V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,619,146 (GRCm39) |
L16078F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,805,888 (GRCm39) |
F132I |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,060,654 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
T |
7: 85,272,877 (GRCm39) |
N564Y |
probably damaging |
Het |
| Zfp638 |
G |
T |
6: 83,953,557 (GRCm39) |
E1221* |
probably null |
Het |
| Zfp934 |
A |
T |
13: 62,665,527 (GRCm39) |
H371Q |
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 |
|
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 |
|
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'- CCCAATGTCAGTTTTGTTCATGACG -3'
(R):5'- TTGTCCTTAAGGTCTCAAGAAGG -3'
Sequencing Primer
(F):5'- ATGACGACATTGATTTCCTCTGG -3'
(R):5'- AGTATTTCCACCTAGGGATCATCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation