Incidental Mutation 'IGL02371:Rad51ap1'
| ID |
290939 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad51ap1
|
| Ensembl Gene |
ENSMUSG00000030346 |
| Gene Name |
RAD51 associated protein 1 |
| Synonyms |
2510006L10Rik, RAB22 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
126900378-126916664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126904527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 119
(N119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112220]
[ENSMUST00000112221]
[ENSMUST00000144954]
[ENSMUST00000202897]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112220
AA Change: N177S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: N177S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112221
AA Change: N178S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: N178S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
222 |
N/A |
INTRINSIC |
|
Pfam:RAD51_interact
|
293 |
331 |
1.9e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144954
AA Change: N119S
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346
AA Change: N119S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
121 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202897
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,785,238 (GRCm39) |
S63F |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Rad51ap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Rad51ap1
|
APN |
6 |
126,905,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Rad51ap1
|
APN |
6 |
126,905,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Rad51ap1
|
UTSW |
6 |
126,901,160 (GRCm39) |
makesense |
probably null |
|
|
R0359:Rad51ap1
|
UTSW |
6 |
126,911,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0488:Rad51ap1
|
UTSW |
6 |
126,911,723 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1527:Rad51ap1
|
UTSW |
6 |
126,905,130 (GRCm39) |
splice site |
probably null |
|
|
R3018:Rad51ap1
|
UTSW |
6 |
126,916,485 (GRCm39) |
start gained |
probably null |
|
|
R4464:Rad51ap1
|
UTSW |
6 |
126,911,731 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4691:Rad51ap1
|
UTSW |
6 |
126,904,516 (GRCm39) |
missense |
probably benign |
|
|
R5314:Rad51ap1
|
UTSW |
6 |
126,905,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Rad51ap1
|
UTSW |
6 |
126,905,190 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7177:Rad51ap1
|
UTSW |
6 |
126,901,983 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8026:Rad51ap1
|
UTSW |
6 |
126,911,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8356:Rad51ap1
|
UTSW |
6 |
126,901,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9652:Rad51ap1
|
UTSW |
6 |
126,904,526 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation