Incidental Mutation 'IGL00088:Recql4'
ID |
906 |
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 # |
IGL00088
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76591536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 484
(A484T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000230724]
[ENSMUST00000155225]
[ENSMUST00000142610]
[ENSMUST00000155735]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019224
|
SMART Domains |
Protein: ENSMUSP00000019224 Gene: ENSMUSG00000019080
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
8 |
373 |
3e-16 |
PFAM |
transmembrane domain
|
388 |
407 |
N/A |
INTRINSIC |
|
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 |
possibly damaging
Transcript: ENSMUST00000036852
AA Change: A484T
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762 AA Change: A484T
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: ENSMUST00000154531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138132
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
AA Change: A391T
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
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 |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
A |
G |
18: 36,798,512 (GRCm39) |
|
probably benign |
Het |
Anpep |
A |
G |
7: 79,475,484 (GRCm39) |
V879A |
possibly damaging |
Het |
Asb13 |
T |
G |
13: 3,693,476 (GRCm39) |
V78G |
probably null |
Het |
Atad2b |
A |
G |
12: 5,074,593 (GRCm39) |
R1051G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
C1ql2 |
G |
T |
1: 120,269,399 (GRCm39) |
G185C |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,829 (GRCm39) |
S745P |
possibly damaging |
Het |
Col19a1 |
A |
T |
1: 24,600,387 (GRCm39) |
S52T |
unknown |
Het |
Col4a2 |
G |
T |
8: 11,493,685 (GRCm39) |
G1418V |
probably damaging |
Het |
Crnkl1 |
C |
T |
2: 145,760,388 (GRCm39) |
D677N |
possibly damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,392,079 (GRCm39) |
N125I |
probably benign |
Het |
Cyp2t4 |
A |
T |
7: 26,854,723 (GRCm39) |
M68L |
probably benign |
Het |
Dclk2 |
T |
A |
3: 86,706,397 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,308,988 (GRCm39) |
D1921G |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,905,667 (GRCm39) |
G4104S |
probably damaging |
Het |
Echdc2 |
T |
C |
4: 108,036,108 (GRCm39) |
I273T |
probably damaging |
Het |
Extl1 |
T |
C |
4: 134,085,330 (GRCm39) |
K596E |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,029,663 (GRCm39) |
D108V |
probably null |
Het |
Fam135b |
A |
G |
15: 71,322,343 (GRCm39) |
L1274P |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,639 (GRCm39) |
H2228Q |
possibly damaging |
Het |
Gcc2 |
C |
T |
10: 58,128,502 (GRCm39) |
H1341Y |
probably damaging |
Het |
Gls2 |
A |
G |
10: 128,036,840 (GRCm39) |
|
probably null |
Het |
Gpr137 |
A |
C |
19: 6,917,072 (GRCm39) |
V139G |
probably damaging |
Het |
Ikbke |
A |
G |
1: 131,197,749 (GRCm39) |
|
probably null |
Het |
Irak2 |
A |
T |
6: 113,655,636 (GRCm39) |
N285Y |
probably benign |
Het |
Kcnu1 |
G |
A |
8: 26,387,884 (GRCm39) |
C566Y |
probably benign |
Het |
Klhl29 |
G |
A |
12: 5,190,705 (GRCm39) |
P97S |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,941,591 (GRCm39) |
|
probably benign |
Het |
Lhx6 |
G |
A |
2: 35,981,728 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,723,651 (GRCm39) |
L2529P |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Naa15 |
T |
A |
3: 51,345,826 (GRCm39) |
V19D |
probably damaging |
Het |
Ncbp3 |
A |
T |
11: 72,964,355 (GRCm39) |
|
probably benign |
Het |
Nckipsd |
G |
A |
9: 108,692,168 (GRCm39) |
V530I |
probably benign |
Het |
Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
Nnmt |
A |
T |
9: 48,503,224 (GRCm39) |
|
probably benign |
Het |
Nup58 |
T |
A |
14: 60,480,026 (GRCm39) |
I207L |
probably benign |
Het |
Or14j2 |
A |
T |
17: 37,885,808 (GRCm39) |
C169S |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,578 (GRCm39) |
M197K |
probably damaging |
Het |
Or5k16 |
C |
T |
16: 58,736,213 (GRCm39) |
E264K |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,510 (GRCm39) |
N741K |
probably damaging |
Het |
Pard6a |
T |
A |
8: 106,429,833 (GRCm39) |
C264S |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,091,099 (GRCm39) |
N276S |
probably damaging |
Het |
Pramel31 |
T |
A |
4: 144,089,100 (GRCm39) |
H139Q |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,307 (GRCm39) |
K121N |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,534,003 (GRCm39) |
|
probably benign |
Het |
Rad51d |
T |
C |
11: 82,780,572 (GRCm39) |
D70G |
probably damaging |
Het |
Reg3g |
A |
T |
6: 78,443,762 (GRCm39) |
S149T |
probably benign |
Het |
Rpl13a |
C |
A |
7: 44,776,495 (GRCm39) |
|
probably null |
Het |
Scn10a |
T |
C |
9: 119,501,292 (GRCm39) |
Y164C |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,594,784 (GRCm39) |
I1878V |
probably benign |
Het |
Sgcg |
T |
A |
14: 61,477,796 (GRCm39) |
R98* |
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
A |
T |
6: 40,468,274 (GRCm39) |
I35F |
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,638 (GRCm39) |
F270S |
possibly damaging |
Het |
Traip |
C |
T |
9: 107,847,749 (GRCm39) |
R391W |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,398 (GRCm39) |
N251D |
probably damaging |
Het |
Trmt2a |
T |
A |
16: 18,067,351 (GRCm39) |
V8D |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,964,512 (GRCm39) |
E221G |
probably damaging |
Het |
Ubr3 |
A |
C |
2: 69,819,154 (GRCm39) |
I9L |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,702,897 (GRCm39) |
S575P |
probably benign |
Het |
Vmn2r52 |
G |
T |
7: 9,903,023 (GRCm39) |
H468Q |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,661,488 (GRCm39) |
T776S |
possibly damaging |
Het |
|
Other mutations in Recql4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Recql4
|
APN |
15 |
76,594,112 (GRCm39) |
splice site |
probably benign |
|
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 |
2011-07-12 |