Incidental Mutation 'R0975:Recql5'
| ID |
81085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql5
|
| Ensembl Gene |
ENSMUSG00000020752 |
| Gene Name |
RecQ protein-like 5 |
| Synonyms |
Recql5b, Recq5b |
| MMRRC Submission |
039104-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
R0975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115783421-115824303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 115814082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 240
(D240E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021097]
[ENSMUST00000131578]
[ENSMUST00000134208]
[ENSMUST00000140174]
|
| AlphaFold |
Q8VID5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021097
AA Change: D354E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: D354E
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
25 |
230 |
1.13e-29 |
SMART |
|
HELICc
|
274 |
355 |
8.68e-22 |
SMART |
|
Pfam:RecQ_Zn_bind
|
366 |
436 |
1.8e-12 |
PFAM |
|
low complexity region
|
472 |
499 |
N/A |
INTRINSIC |
|
PDB:4BK0|B
|
516 |
621 |
2e-51 |
PDB |
|
Pfam:RecQ5
|
626 |
818 |
3.1e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131578
AA Change: D81E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: D81E
| Domain | Start | End | E-Value | Type |
|---|
|
HELICc
|
1 |
82 |
8.68e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134208
AA Change: D240E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: D240E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
25 |
96 |
4e-34 |
BLAST |
|
HELICc
|
160 |
241 |
8.68e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140174
|
| SMART Domains |
Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
25 |
230 |
1.13e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156776
|
| Meta Mutation Damage Score |
0.3657 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene express elevated levels of sister chromatid exchange due to a failure to suppress crossovers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,155 (GRCm39) |
F690L |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,984,437 (GRCm39) |
Y464C |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,888,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,563,927 (GRCm39) |
N299K |
possibly damaging |
Het |
| Atl3 |
G |
A |
19: 7,498,500 (GRCm39) |
W210* |
probably null |
Het |
| Bag1 |
T |
C |
4: 40,937,152 (GRCm39) |
N320D |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,898,274 (GRCm39) |
N24D |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,823,993 (GRCm39) |
P1420L |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,614 (GRCm39) |
P304S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,648,619 (GRCm39) |
I969F |
possibly damaging |
Het |
| Coro1c |
C |
G |
5: 114,020,182 (GRCm39) |
R11P |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,004,165 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,597,622 (GRCm39) |
K459Q |
possibly damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,691,802 (GRCm39) |
T374A |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,857,532 (GRCm39) |
N289I |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,435,307 (GRCm39) |
I126N |
probably damaging |
Het |
| Esr2 |
C |
T |
12: 76,192,082 (GRCm39) |
M315I |
possibly damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,307 (GRCm39) |
N449I |
probably benign |
Het |
| Frmpd1 |
C |
T |
4: 45,279,000 (GRCm39) |
T575I |
probably benign |
Het |
| Gm14403 |
T |
G |
2: 177,201,217 (GRCm39) |
N145K |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,942,171 (GRCm39) |
D392G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,453,128 (GRCm39) |
S5396A |
probably benign |
Het |
| Hoxd12 |
G |
T |
2: 74,506,278 (GRCm39) |
R230L |
probably damaging |
Het |
| Khsrp |
T |
A |
17: 57,334,066 (GRCm39) |
D154V |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,462 (GRCm39) |
R344H |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 40,924,925 (GRCm39) |
E134G |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,742 (GRCm39) |
Q113* |
probably null |
Het |
| Mug1 |
A |
T |
6: 121,855,498 (GRCm39) |
D944V |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,826 (GRCm39) |
S950P |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Or1n1b |
C |
A |
2: 36,780,562 (GRCm39) |
M99I |
possibly damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,513 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,829,832 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,143,907 (GRCm39) |
|
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,399,500 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,472,320 (GRCm39) |
|
probably null |
Het |
| Sec31a |
A |
C |
5: 100,543,763 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,241 (GRCm39) |
V265A |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,165,735 (GRCm39) |
D7V |
possibly damaging |
Het |
| Stk31 |
C |
G |
6: 49,400,343 (GRCm39) |
D389E |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,893,966 (GRCm39) |
A146T |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,121,843 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,523,132 (GRCm39) |
D119V |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,570 (GRCm39) |
E287K |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,633 (GRCm39) |
M196L |
probably damaging |
Het |
| Vmn2r9 |
T |
G |
5: 108,991,169 (GRCm39) |
T731P |
probably damaging |
Het |
| Wfdc6b |
G |
A |
2: 164,455,705 (GRCm39) |
M11I |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,925,077 (GRCm39) |
T32S |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,814 (GRCm39) |
T327A |
probably benign |
Het |
|
| Other mutations in Recql5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Recql5
|
APN |
11 |
115,788,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01589:Recql5
|
APN |
11 |
115,785,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Recql5
|
APN |
11 |
115,823,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02131:Recql5
|
APN |
11 |
115,814,068 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02198:Recql5
|
APN |
11 |
115,785,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02236:Recql5
|
APN |
11 |
115,784,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02501:Recql5
|
APN |
11 |
115,785,917 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02980:Recql5
|
APN |
11 |
115,784,770 (GRCm39) |
splice site |
probably null |
|
|
IGL03028:Recql5
|
APN |
11 |
115,785,257 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4581001:Recql5
|
UTSW |
11 |
115,823,682 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0152:Recql5
|
UTSW |
11 |
115,785,499 (GRCm39) |
missense |
probably benign |
|
|
R0269:Recql5
|
UTSW |
11 |
115,819,050 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0317:Recql5
|
UTSW |
11 |
115,785,499 (GRCm39) |
missense |
probably benign |
|
|
R0511:Recql5
|
UTSW |
11 |
115,819,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0786:Recql5
|
UTSW |
11 |
115,786,628 (GRCm39) |
missense |
probably benign |
|
|
R1170:Recql5
|
UTSW |
11 |
115,788,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1208:Recql5
|
UTSW |
11 |
115,783,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1208:Recql5
|
UTSW |
11 |
115,783,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1807:Recql5
|
UTSW |
11 |
115,785,941 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1872:Recql5
|
UTSW |
11 |
115,814,135 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1878:Recql5
|
UTSW |
11 |
115,785,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1935:Recql5
|
UTSW |
11 |
115,788,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Recql5
|
UTSW |
11 |
115,788,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1945:Recql5
|
UTSW |
11 |
115,819,123 (GRCm39) |
nonsense |
probably null |
|
|
R2011:Recql5
|
UTSW |
11 |
115,787,923 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2012:Recql5
|
UTSW |
11 |
115,787,923 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2023:Recql5
|
UTSW |
11 |
115,784,466 (GRCm39) |
missense |
probably benign |
|
|
R2183:Recql5
|
UTSW |
11 |
115,787,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3881:Recql5
|
UTSW |
11 |
115,784,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3881:Recql5
|
UTSW |
11 |
115,784,780 (GRCm39) |
missense |
probably benign |
|
|
R4093:Recql5
|
UTSW |
11 |
115,795,714 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4857:Recql5
|
UTSW |
11 |
115,819,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Recql5
|
UTSW |
11 |
115,784,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Recql5
|
UTSW |
11 |
115,818,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Recql5
|
UTSW |
11 |
115,818,691 (GRCm39) |
intron |
probably benign |
|
|
R6160:Recql5
|
UTSW |
11 |
115,823,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6229:Recql5
|
UTSW |
11 |
115,821,540 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6824:Recql5
|
UTSW |
11 |
115,814,038 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7013:Recql5
|
UTSW |
11 |
115,785,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7043:Recql5
|
UTSW |
11 |
115,821,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7135:Recql5
|
UTSW |
11 |
115,821,498 (GRCm39) |
splice site |
probably null |
|
|
R7354:Recql5
|
UTSW |
11 |
115,819,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7373:Recql5
|
UTSW |
11 |
115,819,198 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7503:Recql5
|
UTSW |
11 |
115,785,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7574:Recql5
|
UTSW |
11 |
115,819,248 (GRCm39) |
missense |
probably benign |
|
|
R7597:Recql5
|
UTSW |
11 |
115,819,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7658:Recql5
|
UTSW |
11 |
115,814,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Recql5
|
UTSW |
11 |
115,818,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Recql5
|
UTSW |
11 |
115,818,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8316:Recql5
|
UTSW |
11 |
115,784,861 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8463:Recql5
|
UTSW |
11 |
115,787,619 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Recql5
|
UTSW |
11 |
115,787,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8788:Recql5
|
UTSW |
11 |
115,786,628 (GRCm39) |
missense |
probably benign |
|
|
R9083:Recql5
|
UTSW |
11 |
115,785,475 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9653:Recql5
|
UTSW |
11 |
115,788,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9711:Recql5
|
UTSW |
11 |
115,784,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Recql5
|
UTSW |
11 |
115,814,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Recql5
|
UTSW |
11 |
115,785,432 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAAACGTCTAACCCAGCTTGC -3'
(R):5'- TGAACTCTCTCGACAGGCACACTG -3'
Sequencing Primer
(F):5'- CAGGGATTCTCCTCTAGTTACACAAG -3'
(R):5'- TGCTCCCAGAACACTTAGCTC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation