Incidental Mutation 'R6414:Zranb3'
ID |
514836 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zranb3
|
Ensembl Gene |
ENSMUSG00000036086 |
Gene Name |
zinc finger, RAN-binding domain containing 3 |
Synonyms |
4933425L19Rik |
MMRRC Submission |
044556-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.146)
|
Stock # |
R6414 (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 G
at 127968694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 74
(Y74H)
|
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: Y74H
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083806 Gene: ENSMUSG00000036086 AA Change: Y74H
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 benign
Transcript: ENSMUST00000112538
AA Change: Y74H
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108157 Gene: ENSMUSG00000036086 AA Change: Y74H
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,858 (GRCm39) |
D715G |
probably benign |
Het |
Atg101 |
T |
A |
15: 101,188,341 (GRCm39) |
C149S |
probably benign |
Het |
Atp2c1 |
A |
T |
9: 105,343,855 (GRCm39) |
I84N |
probably damaging |
Het |
Ceacam20 |
C |
A |
7: 19,710,056 (GRCm39) |
A360E |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,243,371 (GRCm39) |
|
probably null |
Het |
Clcc1 |
G |
A |
3: 108,584,167 (GRCm39) |
C517Y |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,769,465 (GRCm39) |
|
probably null |
Het |
Ctnna3 |
T |
C |
10: 64,096,644 (GRCm39) |
V394A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,948,113 (GRCm39) |
F188S |
probably damaging |
Het |
Cyth4 |
T |
C |
15: 78,492,346 (GRCm39) |
V125A |
probably damaging |
Het |
Ddx43 |
G |
A |
9: 78,308,218 (GRCm39) |
V131I |
probably benign |
Het |
Elp4 |
A |
G |
2: 105,734,788 (GRCm39) |
S16P |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,223,995 (GRCm39) |
V1182E |
probably damaging |
Het |
Fhod3 |
T |
C |
18: 25,223,935 (GRCm39) |
S1094P |
possibly damaging |
Het |
Fmo6 |
A |
T |
1: 162,748,014 (GRCm39) |
V350D |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,858,773 (GRCm39) |
F1545S |
probably damaging |
Het |
Gata3 |
T |
A |
2: 9,863,245 (GRCm39) |
H423L |
possibly damaging |
Het |
Golt1a |
A |
T |
1: 133,248,032 (GRCm39) |
M87L |
probably damaging |
Het |
Gpr171 |
A |
T |
3: 59,005,544 (GRCm39) |
V77E |
probably damaging |
Het |
Hectd2 |
A |
G |
19: 36,596,186 (GRCm39) |
D757G |
probably benign |
Het |
Hmmr |
A |
G |
11: 40,606,694 (GRCm39) |
|
probably null |
Het |
Il31ra |
A |
G |
13: 112,660,441 (GRCm39) |
V635A |
possibly damaging |
Het |
Lama1 |
T |
C |
17: 68,053,905 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
G |
A |
7: 27,010,140 (GRCm39) |
P1140L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,386,988 (GRCm39) |
L1210P |
possibly damaging |
Het |
Meox2 |
A |
T |
12: 37,158,830 (GRCm39) |
M1L |
probably benign |
Het |
Mex3d |
A |
G |
10: 80,217,205 (GRCm39) |
S671P |
unknown |
Het |
Mrgprb2 |
C |
T |
7: 48,202,129 (GRCm39) |
V199I |
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,902,271 (GRCm39) |
V114E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,412,834 (GRCm39) |
K1927E |
unknown |
Het |
Or4f52 |
A |
C |
2: 111,061,497 (GRCm39) |
|
probably null |
Het |
Or6c35 |
T |
A |
10: 129,169,578 (GRCm39) |
I276K |
probably benign |
Het |
Otogl |
C |
T |
10: 107,617,911 (GRCm39) |
C1734Y |
probably damaging |
Het |
Parp4 |
T |
A |
14: 56,864,838 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,258 (GRCm39) |
N162K |
probably damaging |
Het |
Pcdhb10 |
A |
C |
18: 37,546,898 (GRCm39) |
H658P |
possibly damaging |
Het |
Pgm2l1 |
G |
T |
7: 99,904,747 (GRCm39) |
A160S |
possibly damaging |
Het |
Prkag2 |
T |
A |
5: 25,305,178 (GRCm39) |
|
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,296,616 (GRCm39) |
L457P |
probably damaging |
Het |
Rasef |
C |
T |
4: 73,658,818 (GRCm39) |
V463M |
probably benign |
Het |
Rb1 |
T |
C |
14: 73,520,414 (GRCm39) |
S42G |
unknown |
Het |
Reep3 |
C |
A |
10: 66,875,356 (GRCm39) |
V36F |
probably damaging |
Het |
Rhcg |
A |
G |
7: 79,248,716 (GRCm39) |
|
probably null |
Het |
Sbno1 |
T |
C |
5: 124,533,994 (GRCm39) |
S661G |
probably benign |
Het |
Slc25a3 |
T |
G |
10: 90,958,190 (GRCm39) |
Q50P |
possibly damaging |
Het |
Slc2a13 |
T |
A |
15: 91,228,008 (GRCm39) |
I395F |
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,559,991 (GRCm39) |
|
probably benign |
Het |
Snta1 |
G |
C |
2: 154,219,987 (GRCm39) |
T391S |
possibly damaging |
Het |
Spata7 |
T |
C |
12: 98,629,479 (GRCm39) |
|
probably null |
Het |
Stx17 |
A |
G |
4: 48,158,809 (GRCm39) |
|
probably null |
Het |
Terf2 |
A |
T |
8: 107,803,486 (GRCm39) |
S365T |
probably benign |
Het |
Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
Trim8 |
A |
T |
19: 46,491,346 (GRCm39) |
H155L |
probably benign |
Het |
Wipi2 |
T |
A |
5: 142,641,693 (GRCm39) |
V83D |
probably damaging |
Het |
Zbtb47 |
T |
G |
9: 121,592,725 (GRCm39) |
D348E |
probably benign |
Het |
Zfp316 |
C |
A |
5: 143,240,639 (GRCm39) |
R460L |
possibly damaging |
Het |
Zfp799 |
C |
T |
17: 33,039,259 (GRCm39) |
V336M |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,365,395 (GRCm39) |
I93N |
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 |
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'- AAGCCCTGAGTTTTGTCATTAGTAC -3'
(R):5'- TTCCACCTAGGGATCATCTGTC -3'
Sequencing Primer
(F):5'- GTCATTAGTACCAAAAAGTCAAAAGC -3'
(R):5'- GACTCTTAACATTCCTAATGATCTT -3'
|
Posted On |
2018-05-04 |