Incidental Mutation 'R5075:Recql4'
ID |
386940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Recql4
|
Ensembl Gene |
ENSMUSG00000033762 |
Gene Name |
RecQ protein-like 4 |
Synonyms |
|
MMRRC Submission |
042664-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5075 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 76593744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 122
(P122L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000230724]
[ENSMUST00000142610]
[ENSMUST00000155225]
[ENSMUST00000155735]
|
AlphaFold |
no structure available at present |
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 damaging
Transcript: ENSMUST00000036852
AA Change: P122L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762 AA Change: P122L
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 |
possibly damaging
Transcript: ENSMUST00000230544
AA Change: P29L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230724
AA Change: P122L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: ENSMUST00000155225
|
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 |
|
Meta Mutation Damage Score |
0.2417 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
100% (57/57) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
Snrnp40 |
T |
C |
4: 130,282,375 (GRCm39) |
Y311H |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
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 |
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'- TGAAACTCTGTTGTGACACCTC -3'
(R):5'- AGGGTCCTTCTATGTCCACC -3'
Sequencing Primer
(F):5'- TCTCTAACCAACCAGGGTCTAGGG -3'
(R):5'- ACCCTTCCTTATAGCACGCACG -3'
|
Posted On |
2016-06-06 |