Incidental Mutation 'R2915:Rad1'
| ID |
254864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad1
|
| Ensembl Gene |
ENSMUSG00000022248 |
| Gene Name |
RAD1 checkpoint DNA exonuclease |
| Synonyms |
|
| MMRRC Submission |
040502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R2915 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10486728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 42
(C42R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022855]
[ENSMUST00000022856]
[ENSMUST00000100775]
[ENSMUST00000168408]
[ENSMUST00000168761]
[ENSMUST00000169050]
[ENSMUST00000170100]
[ENSMUST00000169519]
|
| 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 damaging
Transcript: ENSMUST00000022856
AA Change: C42R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: C42R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
257 |
2.2e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100775
AA Change: C42R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: C42R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
235 |
5.5e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168408
AA Change: C42R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248
AA Change: C42R
| 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 damaging
Transcript: ENSMUST00000170100
AA Change: C12R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: C12R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
1 |
161 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169519
AA Change: C42R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248
AA Change: C42R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
133 |
9e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170531
|
| Meta Mutation Damage Score |
0.4482 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap11a |
A |
G |
2: 113,663,853 (GRCm39) |
V810A |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,800 (GRCm39) |
N387D |
probably benign |
Het |
| Col5a2 |
C |
G |
1: 45,452,656 (GRCm39) |
G358R |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,468 (GRCm39) |
K209R |
probably damaging |
Het |
| Dmkn |
A |
G |
7: 30,464,741 (GRCm39) |
N32S |
unknown |
Het |
| Dusp13b |
T |
A |
14: 21,790,205 (GRCm39) |
N47I |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,139,573 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,591,172 (GRCm39) |
F110L |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,482,734 (GRCm39) |
N197K |
probably benign |
Het |
| Gdnf |
T |
A |
15: 7,845,130 (GRCm39) |
V41E |
possibly damaging |
Het |
| Gm21915 |
A |
G |
9: 40,582,083 (GRCm39) |
I59V |
possibly damaging |
Het |
| Gprin2 |
C |
T |
14: 33,917,038 (GRCm39) |
G244D |
possibly damaging |
Het |
| Grin2d |
T |
C |
7: 45,482,781 (GRCm39) |
|
probably benign |
Het |
| Ice2 |
A |
G |
9: 69,318,122 (GRCm39) |
D241G |
probably benign |
Het |
| Mios |
C |
T |
6: 8,214,935 (GRCm39) |
R44C |
possibly damaging |
Het |
| Nlrp5-ps |
T |
C |
7: 14,320,636 (GRCm39) |
|
noncoding transcript |
Het |
| Nyap2 |
C |
T |
1: 81,065,188 (GRCm39) |
R67* |
probably null |
Het |
| Or4d6 |
G |
A |
19: 12,085,989 (GRCm39) |
P81L |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,743,064 (GRCm39) |
D70E |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,389 (GRCm39) |
V76E |
probably damaging |
Het |
| Or5t9 |
T |
C |
2: 86,659,570 (GRCm39) |
I158T |
probably benign |
Het |
| Or8g19 |
G |
T |
9: 39,055,762 (GRCm39) |
R122L |
possibly damaging |
Het |
| Otop2 |
G |
A |
11: 115,219,972 (GRCm39) |
A271T |
probably benign |
Het |
| Otulin |
A |
G |
15: 27,619,716 (GRCm39) |
|
probably benign |
Het |
| Pax1 |
A |
G |
2: 147,210,348 (GRCm39) |
Y361C |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,693 (GRCm39) |
N613I |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,534,925 (GRCm39) |
K173E |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,411,389 (GRCm39) |
T881S |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,771 (GRCm39) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,240,077 (GRCm39) |
F898I |
probably damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,112 (GRCm39) |
H794Q |
probably benign |
Het |
| Prss1 |
A |
T |
6: 41,439,545 (GRCm39) |
I93F |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,391,239 (GRCm39) |
|
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,638,769 (GRCm39) |
E197G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,062,336 (GRCm39) |
E2260G |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,616 (GRCm39) |
S296P |
probably damaging |
Het |
| Smg1 |
T |
A |
7: 117,810,102 (GRCm39) |
|
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,948,215 (GRCm39) |
V41A |
probably damaging |
Het |
| Ssu2 |
A |
T |
6: 112,354,566 (GRCm39) |
C219* |
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,040,563 (GRCm39) |
V360D |
possibly damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,895 (GRCm39) |
D920N |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,755,692 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wac |
A |
C |
18: 7,926,131 (GRCm39) |
M596L |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,302,014 (GRCm39) |
P1990Q |
probably damaging |
Het |
| Zfp853 |
T |
C |
5: 143,275,332 (GRCm39) |
E96G |
unknown |
Het |
| Zzef1 |
G |
A |
11: 72,801,152 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6420:Rad1
|
UTSW |
15 |
10,488,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCTTCCGGAAGAGGAGCATC -3'
(R):5'- CGTTATCTGTGTGAGACAAGATGG -3'
Sequencing Primer
(F):5'- GGAGCATCCTTCTTCTCGGAG -3'
(R):5'- CAAGATGGGGAAAGTATTTGTTGGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation