Incidental Mutation 'R4464:Rad51ap1'
| ID |
330270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51ap1
|
| Ensembl Gene |
ENSMUSG00000030346 |
| Gene Name |
RAD51 associated protein 1 |
| Synonyms |
2510006L10Rik, RAB22 |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
126900378-126916664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126911731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 52
(N52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112220]
[ENSMUST00000112221]
[ENSMUST00000144954]
[ENSMUST00000202897]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112220
AA Change: N52S
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: N52S
| 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 |
possibly damaging
Transcript: ENSMUST00000112221
AA Change: N52S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: N52S
| 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: ENSMUST00000141212
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144954
AA Change: N52S
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346
AA Change: N52S
| 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: ENSMUST00000202835
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202897
AA Change: N52S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.0794 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
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 |
|
IGL02371:Rad51ap1
|
APN |
6 |
126,904,527 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCACTTGATGGCACCTC -3'
(R):5'- ACCAGTGTTCATCATCAGTGAG -3'
Sequencing Primer
(F):5'- TTGATGGCACCTCCCCGTG -3'
(R):5'- GTGTTCATCATCAGTGAGACAAATTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation