Incidental Mutation 'R5103:Recql4'
ID |
392513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Recql4
|
Ensembl Gene |
ENSMUSG00000033762 |
Gene Name |
RecQ protein-like 4 |
Synonyms |
|
MMRRC Submission |
042691-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5103 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76590956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 468
(L468P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000142610]
[ENSMUST00000230724]
[ENSMUST00000155735]
|
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 damaging
Transcript: ENSMUST00000036852
AA Change: L561P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762 AA Change: L561P
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 damaging
Transcript: ENSMUST00000230544
AA Change: L468P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
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: ENSMUST00000230724
|
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 |
0.2114 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
99% (82/83) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl5 |
G |
A |
5: 31,051,345 (GRCm39) |
R518H |
probably damaging |
Het |
Agfg1 |
T |
C |
1: 82,871,288 (GRCm39) |
S486P |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,745,978 (GRCm39) |
D283G |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,480,066 (GRCm39) |
N162S |
possibly damaging |
Het |
Capn1 |
A |
G |
19: 6,059,140 (GRCm39) |
Y274H |
probably damaging |
Het |
Cdk5 |
A |
T |
5: 24,627,833 (GRCm39) |
V30E |
probably damaging |
Het |
Cep290 |
T |
G |
10: 100,374,882 (GRCm39) |
L1376W |
probably damaging |
Het |
Crybg1 |
T |
A |
10: 43,873,944 (GRCm39) |
T1055S |
probably damaging |
Het |
Cyp2c70 |
A |
G |
19: 40,149,076 (GRCm39) |
Y357H |
probably damaging |
Het |
Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
Eml6 |
T |
A |
11: 29,800,905 (GRCm39) |
E367V |
possibly damaging |
Het |
Emp1 |
A |
G |
6: 135,358,073 (GRCm39) |
T140A |
probably benign |
Het |
Ergic3 |
T |
C |
2: 155,850,545 (GRCm39) |
V74A |
probably benign |
Het |
Fancm |
A |
T |
12: 65,152,632 (GRCm39) |
L1029F |
probably damaging |
Het |
Fank1 |
C |
A |
7: 133,478,570 (GRCm39) |
C210* |
probably null |
Het |
Fbxo31 |
T |
C |
8: 122,279,101 (GRCm39) |
D462G |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,909,849 (GRCm39) |
A736V |
probably benign |
Het |
Fshr |
T |
C |
17: 89,404,796 (GRCm39) |
T56A |
possibly damaging |
Het |
Gm5901 |
A |
T |
7: 105,026,589 (GRCm39) |
|
probably null |
Het |
Golga2 |
A |
G |
2: 32,193,758 (GRCm39) |
E458G |
probably benign |
Het |
Grik2 |
T |
A |
10: 49,372,205 (GRCm39) |
I335F |
probably benign |
Het |
Grin1 |
T |
A |
2: 25,200,433 (GRCm39) |
M230L |
probably benign |
Het |
Gtf2f1 |
C |
T |
17: 57,311,519 (GRCm39) |
G297D |
probably damaging |
Het |
H2-T5 |
T |
C |
17: 36,472,577 (GRCm39) |
|
probably benign |
Het |
Hacd1 |
T |
C |
2: 14,045,724 (GRCm39) |
T136A |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,087,109 (GRCm39) |
S24C |
probably damaging |
Het |
Jtb |
T |
C |
3: 90,139,394 (GRCm39) |
|
probably benign |
Het |
Kif1a |
C |
T |
1: 92,974,418 (GRCm39) |
G979E |
probably damaging |
Het |
Mark2 |
T |
C |
19: 7,261,868 (GRCm39) |
M345V |
probably damaging |
Het |
Mfsd14b |
A |
G |
13: 65,234,907 (GRCm39) |
V90A |
possibly damaging |
Het |
Micu1 |
T |
C |
10: 59,624,806 (GRCm39) |
Y283H |
possibly damaging |
Het |
Mmp2 |
C |
T |
8: 93,558,413 (GRCm39) |
R161* |
probably null |
Het |
Mrpl2 |
G |
A |
17: 46,960,964 (GRCm39) |
R286Q |
probably benign |
Het |
Msh5 |
T |
C |
17: 35,248,215 (GRCm39) |
I783V |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 69,926,747 (GRCm39) |
F65I |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,587,605 (GRCm39) |
V37L |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 70,990,352 (GRCm39) |
T967S |
probably damaging |
Het |
Nolc1 |
A |
T |
19: 46,070,103 (GRCm39) |
K291* |
probably null |
Het |
Or1j18 |
A |
T |
2: 36,624,680 (GRCm39) |
T116S |
probably benign |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or8d2b |
G |
T |
9: 38,788,872 (GRCm39) |
M133I |
probably damaging |
Het |
Or8u8 |
C |
A |
2: 86,011,960 (GRCm39) |
R165L |
probably benign |
Het |
Paip1 |
A |
G |
13: 119,574,515 (GRCm39) |
E70G |
possibly damaging |
Het |
Palmd |
T |
A |
3: 116,721,070 (GRCm39) |
E127V |
probably damaging |
Het |
Paqr6 |
T |
A |
3: 88,275,024 (GRCm39) |
C262* |
probably null |
Het |
Pdcd11 |
A |
G |
19: 47,112,893 (GRCm39) |
H1301R |
probably benign |
Het |
Plce1 |
C |
A |
19: 38,755,659 (GRCm39) |
D1896E |
probably damaging |
Het |
Ppib |
A |
G |
9: 65,968,747 (GRCm39) |
|
probably null |
Het |
Pzp |
C |
T |
6: 128,479,192 (GRCm39) |
V654M |
probably benign |
Het |
Rab26 |
T |
C |
17: 24,753,071 (GRCm39) |
|
probably benign |
Het |
Retreg1 |
C |
T |
15: 25,968,540 (GRCm39) |
Q65* |
probably null |
Het |
Rhpn1 |
C |
T |
15: 75,586,064 (GRCm39) |
T659I |
possibly damaging |
Het |
Rmc1 |
A |
G |
18: 12,322,319 (GRCm39) |
I591V |
probably benign |
Het |
Slc12a5 |
C |
A |
2: 164,834,353 (GRCm39) |
H791Q |
probably damaging |
Het |
Slc40a1 |
G |
A |
1: 45,958,155 (GRCm39) |
Q93* |
probably null |
Het |
Slc4a1 |
T |
C |
11: 102,244,087 (GRCm39) |
M681V |
possibly damaging |
Het |
Slc6a9 |
T |
A |
4: 117,725,352 (GRCm39) |
F493L |
probably benign |
Het |
Smc2 |
A |
G |
4: 52,459,033 (GRCm39) |
E476G |
probably damaging |
Het |
Smco4 |
G |
T |
9: 15,456,090 (GRCm39) |
E59* |
probably null |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,111,054 (GRCm39) |
L167Q |
probably damaging |
Het |
Sult1e1 |
C |
A |
5: 87,724,091 (GRCm39) |
V289L |
probably benign |
Het |
Tbc1d4 |
C |
A |
14: 101,696,318 (GRCm39) |
E877* |
probably null |
Het |
Tenm4 |
A |
T |
7: 96,492,164 (GRCm39) |
I1033F |
probably damaging |
Het |
Tppp2 |
T |
A |
14: 52,156,909 (GRCm39) |
F95L |
probably benign |
Het |
Trappc14 |
A |
G |
5: 138,260,562 (GRCm39) |
V288A |
probably benign |
Het |
Vmn2r41 |
G |
A |
7: 8,141,341 (GRCm39) |
L708F |
probably benign |
Het |
Washc5 |
G |
A |
15: 59,222,018 (GRCm39) |
P126L |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,740,911 (GRCm39) |
I221V |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,659 (GRCm39) |
R628G |
probably benign |
Het |
Zfp207 |
T |
C |
11: 80,282,736 (GRCm39) |
L233P |
probably damaging |
Het |
Zfp827 |
T |
A |
8: 79,797,032 (GRCm39) |
C373S |
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 |
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'- TCATCAATGCAGGCGAAGG -3'
(R):5'- CCGAATGCCCAATGTTCTCC -3'
Sequencing Primer
(F):5'- TCTGGGGACACGATCAGCAC -3'
(R):5'- GAATGCCCAATGTTCTCCATCTCG -3'
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Posted On |
2016-06-15 |