Incidental Mutation 'R6756:Recql4'
| ID |
531071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql4
|
| Ensembl Gene |
ENSMUSG00000033762 |
| Gene Name |
RecQ protein-like 4 |
| Synonyms |
|
| MMRRC Submission |
044872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76589059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 943
(D943G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036852]
[ENSMUST00000230544]
[ENSMUST00000230724]
|
| 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: ENSMUST00000036852
AA Change: D986G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: D986G
| 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 |
noncoding transcript
Transcript: ENSMUST00000229018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
AA Change: D943G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
| Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
| Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
| Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
| Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
| H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
| Meiob |
A |
T |
17: 25,058,506 (GRCm39) |
T470S |
possibly damaging |
Het |
| Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
| Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
| Plekha8 |
C |
T |
6: 54,601,125 (GRCm39) |
Q288* |
probably null |
Het |
| Ppp1r36 |
G |
A |
12: 76,474,696 (GRCm39) |
A64T |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
| Srcin1 |
T |
C |
11: 97,425,836 (GRCm39) |
D433G |
probably damaging |
Het |
| Upb1 |
A |
G |
10: 75,264,135 (GRCm39) |
T194A |
possibly 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 |
|
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 |
|
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'- ACTTCACAAGCACTCCGGTG -3'
(R):5'- TGCTATTTGGAACTACACCCTC -3'
Sequencing Primer
(F):5'- GCCTGTCAGCGAGTGTG -3'
(R):5'- TATTTGGAACTACACCCTCGGCAC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation