Incidental Mutation 'R1487:Recql4'
| ID |
163557 |
| 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 # |
R1487 (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 A
at 76593183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 309
(N309I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000142610]
[ENSMUST00000155735]
[ENSMUST00000230724]
[ENSMUST00000155225]
|
| 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: N309I
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: N309I
| 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: ENSMUST00000142506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
AA Change: N216I
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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 |
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 |
probably benign
Transcript: ENSMUST00000155225
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
C |
6: 146,854,877 (GRCm39) |
V55G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 10,037,402 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
T |
A |
10: 67,933,044 (GRCm39) |
K953* |
probably null |
Het |
| Armh3 |
A |
C |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
| B4galt6 |
A |
G |
18: 20,839,571 (GRCm39) |
V121A |
possibly damaging |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,955 (GRCm39) |
I208V |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,858,537 (GRCm39) |
N306S |
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,821,445 (GRCm39) |
N415K |
probably benign |
Het |
| Cfap57 |
C |
A |
4: 118,471,978 (GRCm39) |
V134F |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,583 (GRCm39) |
K67R |
probably benign |
Het |
| Clock |
T |
C |
5: 76,414,201 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
C |
T |
15: 8,215,715 (GRCm39) |
R424W |
probably damaging |
Het |
| Eif4g1 |
G |
A |
16: 20,497,623 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,941,531 (GRCm39) |
M601L |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,050,066 (GRCm39) |
E3976G |
possibly damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,854 (GRCm39) |
H258L |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,523,971 (GRCm39) |
T517K |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Gm17079 |
A |
T |
14: 51,930,542 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
T |
A |
6: 136,725,824 (GRCm39) |
I375F |
possibly damaging |
Het |
| Hps4 |
C |
T |
5: 112,525,865 (GRCm39) |
Q629* |
probably null |
Het |
| Hunk |
A |
G |
16: 90,183,525 (GRCm39) |
Y61C |
probably damaging |
Het |
| Itga6 |
T |
C |
2: 71,673,584 (GRCm39) |
S873P |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,298 (GRCm39) |
H66R |
possibly damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,772 (GRCm39) |
|
probably null |
Het |
| Khdc3 |
A |
G |
9: 73,009,846 (GRCm39) |
T19A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,745,287 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
T |
7: 25,084,240 (GRCm39) |
A615T |
possibly damaging |
Het |
| Lrguk |
A |
T |
6: 34,039,295 (GRCm39) |
M269L |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,640 (GRCm39) |
N60D |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,685,060 (GRCm39) |
T773A |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,163 (GRCm39) |
D755V |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,034,213 (GRCm39) |
T488A |
probably damaging |
Het |
| Mmp10 |
T |
G |
9: 7,509,978 (GRCm39) |
W473G |
probably damaging |
Het |
| Mrgpra2a |
C |
T |
7: 47,076,434 (GRCm39) |
V275I |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,017 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
C |
T |
7: 143,360,662 (GRCm39) |
V369I |
probably benign |
Het |
| Nptxr |
C |
A |
15: 79,674,104 (GRCm39) |
G424V |
probably damaging |
Het |
| Nrg2 |
C |
T |
18: 36,185,965 (GRCm39) |
G258E |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,019,558 (GRCm39) |
P221S |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,273,245 (GRCm39) |
Y282N |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,288,801 (GRCm39) |
H182L |
probably damaging |
Het |
| Or6c208 |
T |
C |
10: 129,224,209 (GRCm39) |
F236L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,177,057 (GRCm39) |
D477G |
possibly damaging |
Het |
| Pcdh8 |
G |
T |
14: 80,006,987 (GRCm39) |
D525E |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,609,387 (GRCm39) |
S740P |
probably damaging |
Het |
| Prss54 |
A |
G |
8: 96,286,276 (GRCm39) |
S266P |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,737 (GRCm39) |
I741F |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,240 (GRCm39) |
S515Y |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,622,713 (GRCm39) |
T388A |
possibly damaging |
Het |
| Setd6 |
T |
A |
8: 96,444,556 (GRCm39) |
L83H |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,716 (GRCm39) |
W534* |
probably null |
Het |
| St14 |
C |
T |
9: 31,008,476 (GRCm39) |
C488Y |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,414,065 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,814,460 (GRCm39) |
Y1968C |
probably damaging |
Het |
| Tcaim |
T |
A |
9: 122,647,897 (GRCm39) |
Y137* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpm3 |
A |
T |
3: 89,997,389 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,746,352 (GRCm39) |
N475K |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,815 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
T |
C |
11: 62,616,115 (GRCm39) |
K192R |
probably damaging |
Het |
| Zfp799 |
G |
T |
17: 33,039,651 (GRCm39) |
T204N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATTGGCCCCAACTCGTACAAAG -3'
(R):5'- CCTCAGATGTCAGGCAAGGTGAAC -3'
Sequencing Primer
(F):5'- AGCGTTTGTTTTTCATGTTGAGTC -3'
(R):5'- AGGTGAACATCGCTGATCCTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation