Incidental Mutation 'R7086:Recql4'
ID |
549918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Recql4
|
Ensembl Gene |
ENSMUSG00000033762 |
Gene Name |
RecQ protein-like 4 |
Synonyms |
|
MMRRC Submission |
045180-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7086 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 76589753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 764
(G764V)
|
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
|
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 |
unknown
Transcript: ENSMUST00000230544
AA Change: G764V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (60/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,068,635 (GRCm39) |
H28R |
probably damaging |
Het |
Adgre4 |
T |
C |
17: 56,127,649 (GRCm39) |
I563T |
probably benign |
Het |
Ankub1 |
A |
T |
3: 57,597,746 (GRCm39) |
C75S |
probably damaging |
Het |
Antxrl |
G |
A |
14: 33,787,873 (GRCm39) |
V299I |
probably benign |
Het |
Arfgef2 |
T |
A |
2: 166,718,536 (GRCm39) |
C1442S |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,169,881 (GRCm39) |
D399G |
possibly damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,554,414 (GRCm39) |
Y666N |
probably damaging |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Cfap91 |
A |
T |
16: 38,127,219 (GRCm39) |
F512L |
possibly damaging |
Het |
Chrng |
C |
A |
1: 87,138,735 (GRCm39) |
R455S |
probably benign |
Het |
Cimap1a |
A |
G |
7: 140,429,402 (GRCm39) |
H151R |
probably benign |
Het |
Cluh |
T |
A |
11: 74,558,166 (GRCm39) |
H1155Q |
possibly damaging |
Het |
Col16a1 |
G |
A |
4: 129,946,773 (GRCm39) |
|
probably null |
Het |
Cpne5 |
G |
A |
17: 29,378,051 (GRCm39) |
P576L |
unknown |
Het |
Crocc |
C |
A |
4: 140,774,368 (GRCm39) |
V144L |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,324,669 (GRCm39) |
V2781A |
probably damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,744,355 (GRCm39) |
F326L |
probably benign |
Het |
Dclk1 |
G |
A |
3: 55,395,333 (GRCm39) |
|
probably null |
Het |
Dennd2b |
A |
G |
7: 109,124,781 (GRCm39) |
I1083T |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,789,285 (GRCm39) |
R3303G |
probably benign |
Het |
Dnhd1 |
G |
T |
7: 105,357,739 (GRCm39) |
R3191S |
probably benign |
Het |
Fgfbp3 |
T |
G |
19: 36,896,103 (GRCm39) |
S172R |
possibly damaging |
Het |
Gpr158 |
G |
A |
2: 21,831,386 (GRCm39) |
V829I |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,759,750 (GRCm39) |
D647G |
probably damaging |
Het |
H2-Q7 |
T |
A |
17: 35,658,461 (GRCm39) |
V33E |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,326,877 (GRCm39) |
T4739A |
possibly damaging |
Het |
Kcnip1 |
G |
T |
11: 33,584,629 (GRCm39) |
P175T |
probably damaging |
Het |
Klhl10 |
T |
C |
11: 100,347,768 (GRCm39) |
V608A |
probably benign |
Het |
Klhl2 |
A |
G |
8: 65,275,664 (GRCm39) |
Y80H |
probably damaging |
Het |
Lnx2 |
A |
T |
5: 146,956,988 (GRCm39) |
|
probably null |
Het |
Lst1 |
G |
A |
17: 35,404,262 (GRCm39) |
H59Y |
probably damaging |
Het |
Mphosph8 |
G |
C |
14: 56,905,980 (GRCm39) |
V58L |
possibly damaging |
Het |
Mpnd |
C |
A |
17: 56,316,457 (GRCm39) |
S45R |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,183,453 (GRCm39) |
|
probably null |
Het |
Or12j4 |
A |
G |
7: 140,046,341 (GRCm39) |
T76A |
possibly damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,594 (GRCm39) |
I107V |
probably benign |
Het |
Phox2a |
A |
G |
7: 101,467,718 (GRCm39) |
Y5C |
probably damaging |
Het |
Pkdrej |
A |
G |
15: 85,704,317 (GRCm39) |
S540P |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,849,767 (GRCm39) |
M1133V |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,667,297 (GRCm39) |
M1126V |
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,225,186 (GRCm39) |
Y96C |
probably damaging |
Het |
Prpsap1 |
T |
C |
11: 116,368,109 (GRCm39) |
T234A |
probably benign |
Het |
R3hcc1l |
T |
C |
19: 42,570,409 (GRCm39) |
V668A |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,993,353 (GRCm39) |
S712P |
probably benign |
Het |
Rcc2 |
T |
C |
4: 140,435,280 (GRCm39) |
C100R |
probably benign |
Het |
Rlbp1 |
A |
G |
7: 79,029,813 (GRCm39) |
I140T |
possibly damaging |
Het |
Samsn1 |
T |
C |
16: 75,667,794 (GRCm39) |
T261A |
probably benign |
Het |
Sgtb |
T |
C |
13: 104,254,924 (GRCm39) |
S65P |
possibly damaging |
Het |
Spag9 |
T |
C |
11: 93,988,690 (GRCm39) |
V920A |
probably benign |
Het |
Spata31 |
T |
A |
13: 65,070,043 (GRCm39) |
S730R |
probably benign |
Het |
Spta1 |
C |
T |
1: 174,027,050 (GRCm39) |
A841V |
probably damaging |
Het |
Tnfaip1 |
T |
C |
11: 78,416,265 (GRCm39) |
S273G |
probably benign |
Het |
Vezf1 |
T |
C |
11: 87,969,364 (GRCm39) |
V371A |
probably benign |
Het |
Vmn1r67 |
G |
A |
7: 10,181,044 (GRCm39) |
V103I |
possibly damaging |
Het |
Vmn2r87 |
G |
T |
10: 130,333,178 (GRCm39) |
T24K |
probably benign |
Het |
Wdr43 |
G |
A |
17: 71,923,434 (GRCm39) |
G60D |
probably benign |
Het |
Xkr4 |
G |
A |
1: 3,287,185 (GRCm39) |
T335I |
probably damaging |
Het |
Zdhhc23 |
A |
T |
16: 43,791,873 (GRCm39) |
I300N |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,741,056 (GRCm39) |
K403R |
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 |
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 |
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'- GCTAGGAAGTCAGTGCTGTC -3'
(R):5'- TACAACAGGCCTTCATGCGG -3'
Sequencing Primer
(F):5'- CTGTCAGCGTGGGCATGTC -3'
(R):5'- AGTGGCCACGGTAGCATTTG -3'
|
Posted On |
2019-05-15 |