Incidental Mutation 'V7581:Recql4'
ID |
152579 |
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 # |
V7581 ()
of strain
stinger
|
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 76590369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 705
(D705G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000155735]
[ENSMUST00000230724]
[ENSMUST00000142610]
|
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: D705G
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762 AA Change: D705G
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: D612G
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
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 |
noncoding transcript
Transcript: ENSMUST00000229018
|
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: ENSMUST00000230468
|
Meta Mutation Damage Score |
0.0631 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Abcb10 |
GGCCATCG |
GG |
8: 124,696,500 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Clasp1 |
G |
A |
1: 118,509,078 (GRCm39) |
R1027Q |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
Het |
Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
Glrx3 |
A |
G |
7: 137,060,882 (GRCm39) |
H172R |
probably benign |
Het |
Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
Or5p57 |
G |
T |
7: 107,665,885 (GRCm39) |
T40K |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
Prkcb |
G |
T |
7: 122,127,699 (GRCm39) |
W274C |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Slc5a6 |
C |
T |
5: 31,199,957 (GRCm39) |
|
probably null |
Het |
Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
Tmc3 |
T |
C |
7: 83,271,713 (GRCm39) |
V955A |
probably benign |
Het |
Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
Vmn2r68 |
C |
T |
7: 84,871,088 (GRCm39) |
V732I |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
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 |
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 |
V7583:Recql4
|
UTSW |
15 |
76,590,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGCCAGCATGGTAGGCTTC -3'
(R):5'- AGCACTGTCCTGGTTCAGGTTCTC -3'
Sequencing Primer
(F):5'- TGACTGATGAGACCACAGC -3'
(R):5'- TCTCCGGGAGCATATGGG -3'
|
Posted On |
2014-01-29 |