Incidental Mutation 'R6824:Recql5'
| ID |
534065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql5
|
| Ensembl Gene |
ENSMUSG00000020752 |
| Gene Name |
RecQ protein-like 5 |
| Synonyms |
Recq5b, Recql5b |
| MMRRC Submission |
044936-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
R6824 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115892595-115933477 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115923212 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 369
(R369Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021097]
[ENSMUST00000131578]
[ENSMUST00000134208]
[ENSMUST00000140174]
|
| AlphaFold |
Q8VID5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021097
AA Change: R369Q
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752
AA Change: R369Q
| 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 |
possibly damaging
Transcript: ENSMUST00000131578
AA Change: R96Q
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752
AA Change: R96Q
| Domain | Start | End | E-Value | Type |
|---|
|
HELICc
|
1 |
82 |
8.68e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134208
AA Change: R255Q
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752
AA Change: R255Q
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
25 |
96 |
4e-34 |
BLAST |
|
HELICc
|
160 |
241 |
8.68e-22 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
A |
G |
6: 39,575,124 (GRCm38) |
D275G |
probably benign |
Het |
| Cdh4 |
G |
A |
2: 179,797,558 (GRCm38) |
R166H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,714,549 (GRCm38) |
K1051E |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,272,953 (GRCm38) |
M16L |
probably benign |
Het |
| Cmas |
A |
G |
6: 142,771,236 (GRCm38) |
T285A |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,406,829 (GRCm38) |
M213L |
probably benign |
Het |
| Ctif |
C |
T |
18: 75,521,711 (GRCm38) |
R248Q |
probably damaging |
Het |
| Cyth3 |
T |
C |
5: 143,686,510 (GRCm38) |
I60T |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,018,892 (GRCm38) |
I310T |
possibly damaging |
Het |
| Defb6 |
T |
C |
8: 19,228,083 (GRCm38) |
I57T |
probably benign |
Het |
| Dnajc27 |
T |
C |
12: 4,106,897 (GRCm38) |
V262A |
possibly damaging |
Het |
| Emsy |
G |
A |
7: 98,593,407 (GRCm38) |
T1175M |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,085,264 (GRCm38) |
G356S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,747,101 (GRCm38) |
E187K |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 38,957,525 (GRCm38) |
V2258E |
probably benign |
Het |
| Gm136 |
G |
A |
4: 34,746,591 (GRCm38) |
T140I |
probably benign |
Het |
| Gm1673 |
T |
C |
5: 33,983,725 (GRCm38) |
|
probably benign |
Het |
| Gps1 |
T |
C |
11: 120,787,428 (GRCm38) |
F265S |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 25,046,355 (GRCm38) |
R431Q |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,826,717 (GRCm38) |
V560A |
possibly damaging |
Het |
| Kmt2b |
A |
G |
7: 30,586,276 (GRCm38) |
|
probably benign |
Het |
| Krt8 |
T |
C |
15: 101,998,440 (GRCm38) |
N317S |
possibly damaging |
Het |
| Lad1 |
A |
G |
1: 135,827,741 (GRCm38) |
T252A |
probably benign |
Het |
| Maml2 |
G |
A |
9: 13,697,217 (GRCm38) |
S743N |
possibly damaging |
Het |
| Mrpl9 |
C |
A |
3: 94,443,370 (GRCm38) |
P7H |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,145,120 (GRCm38) |
H470L |
probably benign |
Het |
| Nr1i3 |
T |
C |
1: 171,214,973 (GRCm38) |
I56T |
probably benign |
Het |
| Nrd1 |
A |
G |
4: 109,043,425 (GRCm38) |
Y338C |
probably damaging |
Het |
| Olfr702 |
A |
G |
7: 106,824,457 (GRCm38) |
V23A |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,505,699 (GRCm38) |
M426K |
probably benign |
Het |
| Pde6d |
T |
C |
1: 86,545,763 (GRCm38) |
T104A |
possibly damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,131 (GRCm38) |
T1407S |
probably benign |
Het |
| Rnf180 |
T |
A |
13: 105,181,515 (GRCm38) |
D463V |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,744,539 (GRCm38) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,867,934 (GRCm38) |
D488G |
probably benign |
Het |
| Slc9a9 |
C |
T |
9: 95,227,198 (GRCm38) |
P538S |
probably damaging |
Het |
| Snap29 |
A |
G |
16: 17,422,506 (GRCm38) |
K159E |
probably benign |
Het |
| Spaca1 |
A |
G |
4: 34,049,869 (GRCm38) |
V43A |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,587,363 (GRCm38) |
S191P |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,256,902 (GRCm38) |
H73R |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 138,394,115 (GRCm38) |
|
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,051,449 (GRCm38) |
Y793C |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,591,377 (GRCm38) |
|
probably null |
Het |
| Vmn2r61 |
G |
T |
7: 42,299,979 (GRCm38) |
V608L |
probably benign |
Het |
| Xpo4 |
A |
T |
14: 57,613,403 (GRCm38) |
I348N |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,812,699 (GRCm38) |
T249M |
probably benign |
Het |
|
| Other mutations in Recql5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Recql5
|
APN |
11 |
115,897,181 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01589:Recql5
|
APN |
11 |
115,894,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02040:Recql5
|
APN |
11 |
115,932,797 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02131:Recql5
|
APN |
11 |
115,923,242 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02198:Recql5
|
APN |
11 |
115,894,673 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02236:Recql5
|
APN |
11 |
115,894,030 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02501:Recql5
|
APN |
11 |
115,895,091 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL02980:Recql5
|
APN |
11 |
115,893,944 (GRCm38) |
splice site |
probably null |
|
|
IGL03028:Recql5
|
APN |
11 |
115,894,431 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
PIT4581001:Recql5
|
UTSW |
11 |
115,932,856 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0152:Recql5
|
UTSW |
11 |
115,894,673 (GRCm38) |
missense |
probably benign |
|
|
R0269:Recql5
|
UTSW |
11 |
115,928,224 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0317:Recql5
|
UTSW |
11 |
115,894,673 (GRCm38) |
missense |
probably benign |
|
|
R0511:Recql5
|
UTSW |
11 |
115,928,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0786:Recql5
|
UTSW |
11 |
115,895,802 (GRCm38) |
missense |
probably benign |
|
|
R0975:Recql5
|
UTSW |
11 |
115,923,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1170:Recql5
|
UTSW |
11 |
115,897,234 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1208:Recql5
|
UTSW |
11 |
115,893,156 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1208:Recql5
|
UTSW |
11 |
115,893,156 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1807:Recql5
|
UTSW |
11 |
115,895,115 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R1872:Recql5
|
UTSW |
11 |
115,923,309 (GRCm38) |
missense |
probably benign |
0.15 |
|
R1878:Recql5
|
UTSW |
11 |
115,895,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1935:Recql5
|
UTSW |
11 |
115,897,191 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1936:Recql5
|
UTSW |
11 |
115,897,191 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1945:Recql5
|
UTSW |
11 |
115,928,297 (GRCm38) |
nonsense |
probably null |
|
|
R2011:Recql5
|
UTSW |
11 |
115,897,097 (GRCm38) |
missense |
probably benign |
0.20 |
|
R2012:Recql5
|
UTSW |
11 |
115,897,097 (GRCm38) |
missense |
probably benign |
0.20 |
|
R2023:Recql5
|
UTSW |
11 |
115,893,640 (GRCm38) |
missense |
probably benign |
|
|
R2183:Recql5
|
UTSW |
11 |
115,896,787 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3881:Recql5
|
UTSW |
11 |
115,893,954 (GRCm38) |
missense |
probably benign |
|
|
R3881:Recql5
|
UTSW |
11 |
115,893,955 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4093:Recql5
|
UTSW |
11 |
115,904,888 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4857:Recql5
|
UTSW |
11 |
115,928,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5245:Recql5
|
UTSW |
11 |
115,893,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5323:Recql5
|
UTSW |
11 |
115,927,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5796:Recql5
|
UTSW |
11 |
115,927,865 (GRCm38) |
intron |
probably benign |
|
|
R6160:Recql5
|
UTSW |
11 |
115,932,787 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6229:Recql5
|
UTSW |
11 |
115,930,714 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7013:Recql5
|
UTSW |
11 |
115,894,576 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7043:Recql5
|
UTSW |
11 |
115,930,676 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7135:Recql5
|
UTSW |
11 |
115,930,672 (GRCm38) |
splice site |
probably null |
|
|
R7354:Recql5
|
UTSW |
11 |
115,928,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7373:Recql5
|
UTSW |
11 |
115,928,372 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7503:Recql5
|
UTSW |
11 |
115,895,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7574:Recql5
|
UTSW |
11 |
115,928,422 (GRCm38) |
missense |
probably benign |
|
|
R7597:Recql5
|
UTSW |
11 |
115,928,381 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7658:Recql5
|
UTSW |
11 |
115,923,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8025:Recql5
|
UTSW |
11 |
115,928,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8038:Recql5
|
UTSW |
11 |
115,927,352 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8316:Recql5
|
UTSW |
11 |
115,894,035 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8463:Recql5
|
UTSW |
11 |
115,896,793 (GRCm38) |
nonsense |
probably null |
|
|
R8770:Recql5
|
UTSW |
11 |
115,897,117 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8788:Recql5
|
UTSW |
11 |
115,895,802 (GRCm38) |
missense |
probably benign |
|
|
R9083:Recql5
|
UTSW |
11 |
115,894,649 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9653:Recql5
|
UTSW |
11 |
115,897,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9711:Recql5
|
UTSW |
11 |
115,893,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Recql5
|
UTSW |
11 |
115,923,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Recql5
|
UTSW |
11 |
115,894,606 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACAAACGTCTAACCC -3'
(R):5'- CTGCTCCCAGAACACTTAGC -3'
Sequencing Primer
(F):5'- TGACAAACGTCTAACCCAGCTTG -3'
(R):5'- ACTTAGCTCTCCCATCATTATCAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation