Incidental Mutation 'R6372:Recql'
| ID |
513573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql
|
| Ensembl Gene |
ENSMUSG00000030243 |
| Gene Name |
RecQ protein-like |
| Synonyms |
RecQ1 |
| MMRRC Submission |
044522-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R6372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142296068-142332802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142322566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 112
(V112A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032370]
[ENSMUST00000100832]
[ENSMUST00000111803]
[ENSMUST00000128082]
[ENSMUST00000129694]
[ENSMUST00000203772]
|
| AlphaFold |
Q9Z129 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032370
AA Change: V112A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
|
DEXDc
|
88 |
291 |
2.5e-27 |
SMART |
|
HELICc
|
328 |
409 |
2.2e-26 |
SMART |
|
Pfam:RQC
|
488 |
592 |
5.5e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100832
AA Change: V112A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
|
DEXDc
|
88 |
291 |
6e-25 |
SMART |
|
HELICc
|
328 |
409 |
5.51e-24 |
SMART |
|
Pfam:RQC
|
488 |
592 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111803
AA Change: V112A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107434
Gene: ENSMUSG00000030243
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
|
DEXDc
|
88 |
291 |
6e-25 |
SMART |
|
HELICc
|
328 |
409 |
5.51e-24 |
SMART |
|
Pfam:RecQ_Zn_bind
|
420 |
479 |
2.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128082
|
| SMART Domains |
Protein: ENSMUSP00000120951
Gene: ENSMUSG00000030243
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
24 |
84 |
4e-16 |
BLAST |
|
PDB:2WWY|B
|
63 |
85 |
9e-9 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129694
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122328
Gene: ENSMUSG00000030243
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
|
Pfam:DEAD
|
93 |
166 |
6.6e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203772
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145179
Gene: ENSMUSG00000030243
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
|
Pfam:DEAD
|
93 |
166 |
8.5e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (59/61) |
| 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 member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
PHENOTYPE: Homozygous mutation of this gene results in chromosomal instability, with embryonic fibroblasts exhibiting aneuploidy, spontaneous chromosomal breakage, frequent translocation events, increased sensitivity to ionizing radiation, and increased frequency of sister chromatid exchange. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,162,273 (GRCm39) |
H696R |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
| Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,696,882 (GRCm39) |
V917A |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
| Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
| Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
| Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
| Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
| Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
| Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
| Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,693,355 (GRCm39) |
D259G |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
| Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
| Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
| Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
| Taf4b |
T |
G |
18: 14,937,790 (GRCm39) |
V258G |
probably damaging |
Het |
| Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
| Tnk2 |
T |
A |
16: 32,498,603 (GRCm39) |
W639R |
probably damaging |
Het |
| Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
| Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
| Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
| Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
probably damaging |
Het |
|
| Other mutations in Recql |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Recql
|
APN |
6 |
142,322,647 (GRCm39) |
missense |
probably null |
0.34 |
|
IGL01933:Recql
|
APN |
6 |
142,310,364 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02026:Recql
|
APN |
6 |
142,312,394 (GRCm39) |
nonsense |
probably null |
|
|
IGL03181:Recql
|
APN |
6 |
142,323,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
K3955:Recql
|
UTSW |
6 |
142,323,932 (GRCm39) |
nonsense |
probably null |
|
|
R0380:Recql
|
UTSW |
6 |
142,315,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1371:Recql
|
UTSW |
6 |
142,318,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1742:Recql
|
UTSW |
6 |
142,310,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Recql
|
UTSW |
6 |
142,310,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1921:Recql
|
UTSW |
6 |
142,311,315 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2032:Recql
|
UTSW |
6 |
142,313,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2966:Recql
|
UTSW |
6 |
142,309,313 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4666:Recql
|
UTSW |
6 |
142,322,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Recql
|
UTSW |
6 |
142,309,426 (GRCm39) |
intron |
probably benign |
|
|
R4863:Recql
|
UTSW |
6 |
142,304,732 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5115:Recql
|
UTSW |
6 |
142,304,285 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5400:Recql
|
UTSW |
6 |
142,308,073 (GRCm39) |
intron |
probably benign |
|
|
R5781:Recql
|
UTSW |
6 |
142,311,344 (GRCm39) |
splice site |
probably null |
|
|
R5981:Recql
|
UTSW |
6 |
142,318,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Recql
|
UTSW |
6 |
142,310,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6786:Recql
|
UTSW |
6 |
142,310,278 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7399:Recql
|
UTSW |
6 |
142,320,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Recql
|
UTSW |
6 |
142,320,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Recql
|
UTSW |
6 |
142,320,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Recql
|
UTSW |
6 |
142,304,612 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8873:Recql
|
UTSW |
6 |
142,308,013 (GRCm39) |
missense |
|
|
|
R9103:Recql
|
UTSW |
6 |
142,322,515 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9454:Recql
|
UTSW |
6 |
142,320,617 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9683:Recql
|
UTSW |
6 |
142,305,646 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGTAAGCACTGTGAACTC -3'
(R):5'- TGTGGAAAGCGACCATTCAC -3'
Sequencing Primer
(F):5'- GTAAGCACTGTGAACTCTCTATGC -3'
(R):5'- GCGACCATTCACGTCCCATTTATAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation