Incidental Mutation 'IGL01287:Recql4'
| ID |
72790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Recql4
|
| Ensembl Gene |
ENSMUSG00000033762 |
| Gene Name |
RecQ protein-like 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 76594112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000155735]
[ENSMUST00000230724]
[ENSMUST00000142610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036852
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Drc1-Sld2
|
4 |
132 |
2.8e-14 |
PFAM |
|
low complexity region
|
169 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
394 |
410 |
5.67e-5 |
SMART |
|
DEXDc
|
494 |
701 |
5.86e-28 |
SMART |
|
HELICc
|
736 |
831 |
1.48e-24 |
SMART |
|
Blast:DEXDc
|
902 |
1117 |
3e-46 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127208
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136840
|
| SMART Domains |
Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137649
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155735
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142610
|
| SMART Domains |
Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| 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 DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous loss of exons 5-8 causes embryonic death. Deletion of exon 13 causes neo- and postnatal lethality, stunted growth, skin, hair and bone defects, tissue hypoplasia and tooth dysgenesis. Mice lacking exons 9-13 show palate and limb defects, aneuploidy, poikiloderma and cancer predisposition. [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 |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,170,254 (GRCm39) |
C371* |
probably null |
Het |
| Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
| Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
| Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
| Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
| Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
| Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,173 (GRCm39) |
R204C |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,323 (GRCm39) |
N509K |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
| Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
| Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
| Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
| Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,601,199 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
| Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
| Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
| Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
| Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,931 (GRCm39) |
T293M |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
probably damaging |
Het |
|
| Other mutations in Recql4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Recql4
|
APN |
15 |
76,591,536 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01470:Recql4
|
APN |
15 |
76,593,144 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01809:Recql4
|
APN |
15 |
76,593,070 (GRCm39) |
nonsense |
probably null |
|
|
IGL02094:Recql4
|
APN |
15 |
76,593,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02303:Recql4
|
APN |
15 |
76,592,771 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02702:Recql4
|
APN |
15 |
76,591,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Recql4
|
APN |
15 |
76,590,468 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03162:Recql4
|
APN |
15 |
76,590,296 (GRCm39) |
splice site |
probably null |
|
|
ANU74:Recql4
|
UTSW |
15 |
76,589,957 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
F5770:Recql4
|
UTSW |
15 |
76,590,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0688:Recql4
|
UTSW |
15 |
76,594,009 (GRCm39) |
splice site |
probably null |
|
|
R1171:Recql4
|
UTSW |
15 |
76,588,239 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1348:Recql4
|
UTSW |
15 |
76,593,411 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1487:Recql4
|
UTSW |
15 |
76,593,183 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1547:Recql4
|
UTSW |
15 |
76,590,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Recql4
|
UTSW |
15 |
76,588,037 (GRCm39) |
nonsense |
probably null |
|
|
R3813:Recql4
|
UTSW |
15 |
76,588,694 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4066:Recql4
|
UTSW |
15 |
76,590,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Recql4
|
UTSW |
15 |
76,590,244 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4387:Recql4
|
UTSW |
15 |
76,590,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4388:Recql4
|
UTSW |
15 |
76,590,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4700:Recql4
|
UTSW |
15 |
76,592,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Recql4
|
UTSW |
15 |
76,592,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Recql4
|
UTSW |
15 |
76,594,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Recql4
|
UTSW |
15 |
76,593,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Recql4
|
UTSW |
15 |
76,590,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5226:Recql4
|
UTSW |
15 |
76,594,329 (GRCm39) |
missense |
probably benign |
|
|
R5500:Recql4
|
UTSW |
15 |
76,589,778 (GRCm39) |
intron |
probably benign |
|
|
R5547:Recql4
|
UTSW |
15 |
76,589,994 (GRCm39) |
nonsense |
probably null |
|
|
R5824:Recql4
|
UTSW |
15 |
76,592,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Recql4
|
UTSW |
15 |
76,593,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6086:Recql4
|
UTSW |
15 |
76,588,787 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6756:Recql4
|
UTSW |
15 |
76,589,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7075:Recql4
|
UTSW |
15 |
76,590,624 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7086:Recql4
|
UTSW |
15 |
76,589,753 (GRCm39) |
missense |
unknown |
|
|
R7449:Recql4
|
UTSW |
15 |
76,589,765 (GRCm39) |
missense |
unknown |
|
|
R7653:Recql4
|
UTSW |
15 |
76,587,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8314:Recql4
|
UTSW |
15 |
76,594,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Recql4
|
UTSW |
15 |
76,588,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8737:Recql4
|
UTSW |
15 |
76,593,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8789:Recql4
|
UTSW |
15 |
76,588,546 (GRCm39) |
missense |
probably benign |
|
|
R9093:Recql4
|
UTSW |
15 |
76,589,685 (GRCm39) |
missense |
unknown |
|
|
V7580:Recql4
|
UTSW |
15 |
76,590,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
V7581:Recql4
|
UTSW |
15 |
76,590,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
V7583:Recql4
|
UTSW |
15 |
76,590,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2013-10-07 |
Incidental Mutation