Incidental Mutation 'IGL02131:Recql5'
ID |
281183 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Recql5
|
Ensembl Gene |
ENSMUSG00000020752 |
Gene Name |
RecQ protein-like 5 |
Synonyms |
Recql5b, Recq5b |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
IGL02131
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115783421-115824303 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 115814068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 86
(W86L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021097]
[ENSMUST00000131578]
[ENSMUST00000134208]
[ENSMUST00000140174]
|
AlphaFold |
Q8VID5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021097
AA Change: W359L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000021097 Gene: ENSMUSG00000020752 AA Change: W359L
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 benign
Transcript: ENSMUST00000131578
AA Change: W86L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000136178 Gene: ENSMUSG00000020752 AA Change: W86L
Domain | Start | End | E-Value | Type |
HELICc
|
1 |
82 |
8.68e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134208
AA Change: W245L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000137157 Gene: ENSMUSG00000020752 AA Change: W245L
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
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 |
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 |
|
R0975:Recql5
|
UTSW |
11 |
115,814,082 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |