Incidental Mutation 'R4363:Recql4'
| ID |
325006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql4
|
| Ensembl Gene |
ENSMUSG00000033762 |
| Gene Name |
RecQ protein-like 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4363 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76590244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 723
(D723G)
|
| 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 |
probably benign
Transcript: ENSMUST00000036852
AA Change: D723G
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: D723G
| 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: ENSMUST00000154531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
AA Change: D630G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000230468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
T |
19: 43,787,575 (GRCm39) |
W207L |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,151,303 (GRCm39) |
V1081E |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,085,003 (GRCm39) |
I400N |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
C |
17: 29,893,206 (GRCm39) |
L75P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
| Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,582,722 (GRCm39) |
I72F |
probably damaging |
Het |
| Dsn1 |
A |
T |
2: 156,841,062 (GRCm39) |
I214K |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,590,276 (GRCm39) |
W809R |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,648 (GRCm39) |
H289R |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,331 (GRCm39) |
S1008P |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,100 (GRCm39) |
N189S |
probably benign |
Het |
| Hus1 |
G |
T |
11: 8,948,676 (GRCm39) |
L242I |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,291,912 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,792 (GRCm39) |
E244* |
probably null |
Het |
| Mmrn2 |
C |
T |
14: 34,119,934 (GRCm39) |
A268V |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,485,893 (GRCm39) |
A1023E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,557,902 (GRCm39) |
I47V |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,544 (GRCm39) |
I45F |
probably damaging |
Het |
| Or51f5 |
T |
C |
7: 102,424,463 (GRCm39) |
V244A |
probably benign |
Het |
| Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,532,793 (GRCm39) |
S198P |
possibly damaging |
Het |
| Pank1 |
A |
C |
19: 34,804,532 (GRCm39) |
V208G |
probably damaging |
Het |
| Pcdhga12 |
C |
G |
18: 37,899,214 (GRCm39) |
F15L |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,104,020 (GRCm39) |
I147N |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,850,060 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
G |
6: 48,475,665 (GRCm39) |
Y4927C |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,794,766 (GRCm39) |
H477L |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
C |
7: 84,959,700 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGAGTGACTGATGAGACC -3'
(R):5'- AAGCACTGCTCGAGATGTGG -3'
Sequencing Primer
(F):5'- CTGATGAGACCACAGCAGGC -3'
(R):5'- AGATGTGGCTCAGCACCTTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation