Incidental Mutation 'R6420:Rad1'
| ID |
518162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad1
|
| Ensembl Gene |
ENSMUSG00000022248 |
| Gene Name |
RAD1 checkpoint DNA exonuclease |
| Synonyms |
|
| MMRRC Submission |
044562-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.936)
|
| Stock # |
R6420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10488098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022855]
[ENSMUST00000022856]
[ENSMUST00000100775]
[ENSMUST00000168408]
[ENSMUST00000168761]
[ENSMUST00000169050]
[ENSMUST00000169519]
[ENSMUST00000170100]
|
| AlphaFold |
Q9QWZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022855
|
| SMART Domains |
Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
63 |
243 |
3.62e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022856
AA Change: V74A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
257 |
2.2e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100775
AA Change: V74A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
235 |
5.5e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168408
|
| SMART Domains |
Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
67 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168690
|
| SMART Domains |
Protein: ENSMUSP00000132283
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
22 |
147 |
5.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168761
|
| SMART Domains |
Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Brix
|
10 |
51 |
5e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169050
|
| SMART Domains |
Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Brix
|
72 |
154 |
8.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169519
AA Change: V74A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
133 |
9e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170100
AA Change: V44A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
1 |
161 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170531
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,566 (GRCm39) |
I117N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,193,906 (GRCm39) |
E367G |
possibly damaging |
Het |
| Epc2 |
T |
C |
2: 49,341,912 (GRCm39) |
V32A |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,358,726 (GRCm39) |
E275G |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,142,102 (GRCm39) |
D392G |
probably damaging |
Het |
| Lgmn |
T |
A |
12: 102,389,978 (GRCm39) |
R4* |
probably null |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Mup1 |
C |
G |
4: 60,457,758 (GRCm39) |
E31Q |
possibly damaging |
Het |
| Nckap1l |
G |
C |
15: 103,399,893 (GRCm39) |
G1025A |
possibly damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pik3r5 |
G |
A |
11: 68,366,250 (GRCm39) |
W42* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Scara3 |
C |
T |
14: 66,175,701 (GRCm39) |
G22D |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,483,516 (GRCm39) |
D1051E |
probably benign |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,977,128 (GRCm39) |
V78A |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,107,340 (GRCm39) |
N477I |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,505,007 (GRCm39) |
L289P |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
probably damaging |
Het |
|
| Other mutations in Rad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Rad1
|
APN |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01536:Rad1
|
APN |
15 |
10,493,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01544:Rad1
|
APN |
15 |
10,490,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02058:Rad1
|
APN |
15 |
10,493,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02368:Rad1
|
APN |
15 |
10,493,337 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02793:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02875:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0271:Rad1
|
UTSW |
15 |
10,490,543 (GRCm39) |
splice site |
probably null |
|
|
R1874:Rad1
|
UTSW |
15 |
10,488,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Rad1
|
UTSW |
15 |
10,486,721 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2318:Rad1
|
UTSW |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2369:Rad1
|
UTSW |
15 |
10,486,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2875:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2876:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2915:Rad1
|
UTSW |
15 |
10,486,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3721:Rad1
|
UTSW |
15 |
10,488,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Rad1
|
UTSW |
15 |
10,493,212 (GRCm39) |
intron |
probably benign |
|
|
R4931:Rad1
|
UTSW |
15 |
10,492,848 (GRCm39) |
intron |
probably benign |
|
|
R5274:Rad1
|
UTSW |
15 |
10,488,059 (GRCm39) |
splice site |
probably null |
|
|
R5640:Rad1
|
UTSW |
15 |
10,496,009 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5885:Rad1
|
UTSW |
15 |
10,488,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Rad1
|
UTSW |
15 |
10,488,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6341:Rad1
|
UTSW |
15 |
10,492,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7068:Rad1
|
UTSW |
15 |
10,490,379 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Rad1
|
UTSW |
15 |
10,493,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7312:Rad1
|
UTSW |
15 |
10,493,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7817:Rad1
|
UTSW |
15 |
10,493,404 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGTAGTATTCAAGTGGGGAAAG -3'
(R):5'- AGGGCCTAATACTTCCCTCC -3'
Sequencing Primer
(F):5'- GGGAAAGGTTGAAAACTTAGTATGTC -3'
(R):5'- CTTGGCTAACACGTATGAAGTGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation