Incidental Mutation 'R7771:Zranb3'
| ID |
598557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zranb3
|
| Ensembl Gene |
ENSMUSG00000036086 |
| Gene Name |
zinc finger, RAN-binding domain containing 3 |
| Synonyms |
4933425L19Rik |
| MMRRC Submission |
045827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R7771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
127881921-128030784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 127960605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 220
(Y220D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086614]
[ENSMUST00000112538]
|
| AlphaFold |
Q6NZP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086614
AA Change: Y220D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083806
Gene: ENSMUSG00000036086
AA Change: Y220D
| 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 damaging
Transcript: ENSMUST00000112538
AA Change: Y220D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108157
Gene: ENSMUSG00000036086
AA Change: Y220D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF2_N
|
40 |
98 |
6.6e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,069,535 (GRCm39) |
A1287T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,411 (GRCm39) |
K4565R |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,463 (GRCm39) |
Y221C |
probably damaging |
Het |
| BB014433 |
C |
T |
8: 15,092,395 (GRCm39) |
V153M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,850 (GRCm39) |
E977G |
probably benign |
Het |
| C3 |
T |
A |
17: 57,522,797 (GRCm39) |
D1029V |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,957,455 (GRCm39) |
E568G |
probably benign |
Het |
| Cdhr2 |
T |
C |
13: 54,866,088 (GRCm39) |
V296A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,946,702 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
G |
8: 96,491,753 (GRCm39) |
V357A |
probably damaging |
Het |
| Coa3 |
A |
T |
11: 101,169,641 (GRCm39) |
M38K |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,947 (GRCm39) |
N255S |
probably benign |
Het |
| Cysrt1 |
T |
C |
2: 25,129,237 (GRCm39) |
S92G |
probably benign |
Het |
| D030056L22Rik |
A |
G |
19: 18,690,842 (GRCm39) |
E52G |
possibly damaging |
Het |
| Derl1 |
T |
C |
15: 57,743,436 (GRCm39) |
D97G |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,911,092 (GRCm39) |
Y141H |
probably damaging |
Het |
| Eci1 |
T |
A |
17: 24,652,125 (GRCm39) |
L49* |
probably null |
Het |
| Gzma |
C |
T |
13: 113,234,829 (GRCm39) |
C54Y |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,291,717 (GRCm39) |
N3403S |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,275,525 (GRCm39) |
N495D |
|
Het |
| Ighv1-23 |
T |
A |
12: 114,728,356 (GRCm39) |
Q22L |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,228,172 (GRCm39) |
C444R |
probably damaging |
Het |
| Kcnj3 |
C |
A |
2: 55,336,949 (GRCm39) |
H272N |
probably damaging |
Het |
| Lrp6 |
C |
T |
6: 134,439,579 (GRCm39) |
C1218Y |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,916,476 (GRCm39) |
M831T |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,636 (GRCm39) |
E121G |
probably damaging |
Het |
| Mzt1 |
A |
T |
14: 99,278,012 (GRCm39) |
I52N |
probably damaging |
Het |
| Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,297 (GRCm39) |
I23V |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,767 (GRCm39) |
F215I |
probably benign |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,962 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Per3 |
A |
T |
4: 151,110,657 (GRCm39) |
D380E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,125,902 (GRCm39) |
L139Q |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,341,047 (GRCm39) |
Y717H |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,013 (GRCm39) |
H658R |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,952,314 (GRCm39) |
Q626* |
probably null |
Het |
| Polr3e |
T |
C |
7: 120,539,801 (GRCm39) |
V542A |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,050,224 (GRCm39) |
H866L |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,590,832 (GRCm39) |
E65G |
probably benign |
Het |
| Sema3f |
C |
A |
9: 107,569,625 (GRCm39) |
R100L |
possibly damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,149 (GRCm39) |
H792R |
probably benign |
Het |
| Smim18 |
T |
C |
8: 34,232,370 (GRCm39) |
D83G |
possibly damaging |
Het |
| Snx13 |
T |
A |
12: 35,174,527 (GRCm39) |
D685E |
probably benign |
Het |
| Stat5a |
A |
C |
11: 100,754,045 (GRCm39) |
N125T |
probably benign |
Het |
| Stk24 |
T |
C |
14: 121,575,045 (GRCm39) |
E21G |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,189,516 (GRCm39) |
T923A |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tmprss11b |
A |
T |
5: 86,809,554 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,768,013 (GRCm39) |
I829V |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,288,647 (GRCm39) |
Y276H |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,287,460 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
G |
A |
7: 80,542,975 (GRCm39) |
A211V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,163,824 (GRCm39) |
V673A |
unknown |
Het |
| Zfp382 |
A |
G |
7: 29,832,760 (GRCm39) |
H137R |
probably damaging |
Het |
| Zp2 |
T |
G |
7: 119,742,865 (GRCm39) |
D89A |
probably damaging |
Het |
| Zpld2 |
A |
T |
4: 133,922,754 (GRCm39) |
N526K |
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,763,048 (GRCm39) |
V316I |
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 |
|
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 |
|
|
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'- ACCTGGCTCATCTCAACCTG -3'
(R):5'- ATCCTTGAAGAATGGATAGTGTGG -3'
Sequencing Primer
(F):5'- CTTCCCAAGTGCTGGCATTGAAG -3'
(R):5'- GTCTTTGAGGAAGAAGCATTTTTAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation