Incidental Mutation 'R1675:Erbin'
| ID |
188020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erbin
|
| Ensembl Gene |
ENSMUSG00000021709 |
| Gene Name |
Erbb2 interacting protein |
| Synonyms |
1700028E05Rik, Erbb2ip, Erbin |
| MMRRC Submission |
039711-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1675 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
103955295-104057022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103977686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 624
(V624L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022222]
[ENSMUST00000053927]
[ENSMUST00000091269]
[ENSMUST00000169083]
[ENSMUST00000188997]
[ENSMUST00000191275]
|
| AlphaFold |
Q80TH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022222
AA Change: V624L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022222
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1294 |
1374 |
3.6e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053927
AA Change: V624L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000057956
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1368 |
1448 |
3.6e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091269
AA Change: V624L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088813
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1320 |
1400 |
3.6e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169083
AA Change: V624L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127607
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1329 |
1409 |
3.6e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188997
AA Change: V624L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140931
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1212 |
1292 |
3.6e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189323
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191275
AA Change: V624L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140536
Gene: ENSMUSG00000021709
AA Change: V624L
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
48 |
68 |
3.65e0 |
SMART |
|
LRR
|
91 |
114 |
4.97e0 |
SMART |
|
LRR
|
137 |
159 |
4.21e1 |
SMART |
|
LRR
|
160 |
182 |
8.97e0 |
SMART |
|
LRR
|
183 |
205 |
1.41e0 |
SMART |
|
LRR
|
206 |
228 |
3.87e1 |
SMART |
|
LRR
|
229 |
252 |
1.31e0 |
SMART |
|
LRR
|
253 |
274 |
3.56e2 |
SMART |
|
LRR
|
275 |
298 |
1.19e1 |
SMART |
|
LRR
|
321 |
344 |
2.76e1 |
SMART |
|
LRR
|
345 |
366 |
3.27e2 |
SMART |
|
LRR
|
367 |
389 |
1.06e1 |
SMART |
|
low complexity region
|
534 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
659 |
N/A |
INTRINSIC |
|
PDZ
|
1368 |
1448 |
3.6e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a null or gene trapped allele exhibit impaired myelination, reduced nerve conduction, and hyporesponsiveness to tactile stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
C |
12: 113,454,664 (GRCm39) |
Y494H |
probably benign |
Het |
| Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
| Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
| Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
| Dagla |
T |
A |
19: 10,246,687 (GRCm39) |
M138L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
| Eno3 |
T |
C |
11: 70,549,492 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
| Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
| Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
| Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
| Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
| Lilrb4a |
A |
G |
10: 51,372,281 (GRCm39) |
T222A |
probably benign |
Het |
| Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
| Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
| Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
| Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
| Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
| Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
| Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
| Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
| Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,579,790 (GRCm39) |
D781G |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
| Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
| Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
| Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
| Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
probably damaging |
Het |
|
| Other mutations in Erbin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Erbin
|
APN |
13 |
103,970,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Erbin
|
APN |
13 |
103,975,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Erbin
|
APN |
13 |
103,995,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Erbin
|
APN |
13 |
103,971,274 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01930:Erbin
|
APN |
13 |
103,977,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Erbin
|
APN |
13 |
103,998,844 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02736:Erbin
|
APN |
13 |
103,975,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Erbin
|
APN |
13 |
103,977,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03169:Erbin
|
APN |
13 |
103,977,740 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
regard
|
UTSW |
13 |
103,981,429 (GRCm39) |
nonsense |
probably null |
|
|
wishes
|
UTSW |
13 |
103,979,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL02802:Erbin
|
UTSW |
13 |
104,004,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Erbin
|
UTSW |
13 |
103,996,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Erbin
|
UTSW |
13 |
104,005,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Erbin
|
UTSW |
13 |
104,005,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Erbin
|
UTSW |
13 |
103,970,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0508:Erbin
|
UTSW |
13 |
103,970,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Erbin
|
UTSW |
13 |
104,022,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1103:Erbin
|
UTSW |
13 |
104,022,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1139:Erbin
|
UTSW |
13 |
104,020,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1316:Erbin
|
UTSW |
13 |
103,977,742 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1698:Erbin
|
UTSW |
13 |
103,970,239 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1727:Erbin
|
UTSW |
13 |
103,964,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1745:Erbin
|
UTSW |
13 |
103,975,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1746:Erbin
|
UTSW |
13 |
103,987,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Erbin
|
UTSW |
13 |
103,979,959 (GRCm39) |
splice site |
probably benign |
|
|
R1828:Erbin
|
UTSW |
13 |
103,996,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1840:Erbin
|
UTSW |
13 |
103,971,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1987:Erbin
|
UTSW |
13 |
104,022,711 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1992:Erbin
|
UTSW |
13 |
103,970,221 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2013:Erbin
|
UTSW |
13 |
103,994,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Erbin
|
UTSW |
13 |
103,966,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2056:Erbin
|
UTSW |
13 |
103,966,824 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2171:Erbin
|
UTSW |
13 |
103,971,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2366:Erbin
|
UTSW |
13 |
103,981,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Erbin
|
UTSW |
13 |
104,022,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Erbin
|
UTSW |
13 |
104,022,846 (GRCm39) |
splice site |
probably benign |
|
|
R3912:Erbin
|
UTSW |
13 |
103,998,795 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4073:Erbin
|
UTSW |
13 |
103,996,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4458:Erbin
|
UTSW |
13 |
103,970,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Erbin
|
UTSW |
13 |
103,981,393 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4525:Erbin
|
UTSW |
13 |
103,993,600 (GRCm39) |
missense |
probably benign |
|
|
R4780:Erbin
|
UTSW |
13 |
104,020,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Erbin
|
UTSW |
13 |
103,987,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4879:Erbin
|
UTSW |
13 |
103,971,282 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5396:Erbin
|
UTSW |
13 |
103,993,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5898:Erbin
|
UTSW |
13 |
103,975,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5955:Erbin
|
UTSW |
13 |
103,966,700 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6073:Erbin
|
UTSW |
13 |
103,981,429 (GRCm39) |
nonsense |
probably null |
|
|
R6107:Erbin
|
UTSW |
13 |
103,970,400 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6257:Erbin
|
UTSW |
13 |
103,998,796 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6294:Erbin
|
UTSW |
13 |
103,993,564 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6358:Erbin
|
UTSW |
13 |
103,982,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Erbin
|
UTSW |
13 |
103,977,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6485:Erbin
|
UTSW |
13 |
104,004,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Erbin
|
UTSW |
13 |
103,961,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6735:Erbin
|
UTSW |
13 |
104,020,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Erbin
|
UTSW |
13 |
103,971,274 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6749:Erbin
|
UTSW |
13 |
103,970,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Erbin
|
UTSW |
13 |
103,998,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Erbin
|
UTSW |
13 |
103,995,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Erbin
|
UTSW |
13 |
103,970,864 (GRCm39) |
nonsense |
probably null |
|
|
R8104:Erbin
|
UTSW |
13 |
103,971,485 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8140:Erbin
|
UTSW |
13 |
104,056,802 (GRCm39) |
splice site |
probably null |
|
|
R8303:Erbin
|
UTSW |
13 |
103,966,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8392:Erbin
|
UTSW |
13 |
103,970,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Erbin
|
UTSW |
13 |
104,022,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Erbin
|
UTSW |
13 |
103,975,966 (GRCm39) |
nonsense |
probably null |
|
|
R9267:Erbin
|
UTSW |
13 |
103,987,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Erbin
|
UTSW |
13 |
103,971,359 (GRCm39) |
missense |
probably benign |
|
|
R9799:Erbin
|
UTSW |
13 |
103,971,384 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTACAAACAAACTCTGCATGG -3'
(R):5'- TGTTTGCCAGTAACCTCACACTCTG -3'
Sequencing Primer
(F):5'- ACAAACTCTGCATGGGAGTG -3'
(R):5'- GAGTCATGCAGCTTTGTCAAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation