Incidental Mutation 'R4066:Recql4'
ID |
316130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Recql4
|
Ensembl Gene |
ENSMUSG00000033762 |
Gene Name |
RecQ protein-like 4 |
Synonyms |
|
MMRRC Submission |
040973-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4066 (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 76590027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 673
(Y673H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000155735]
[ENSMUST00000230724]
[ENSMUST00000142610]
|
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: Y766H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762 AA Change: Y766H
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 damaging
Transcript: ENSMUST00000230544
AA Change: Y673H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
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: 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
|
Meta Mutation Damage Score |
0.0837 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (50/52) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
Shcbp1 |
A |
G |
8: 4,798,716 (GRCm39) |
I401T |
probably damaging |
Het |
Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
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 |
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'- CTTGCACGTAGCTCTCGAAG -3'
(R):5'- TCGTACCCTGGATTCAGTTATC -3'
Sequencing Primer
(F):5'- TCTCGAAGCTTGGAGGCAGTC -3'
(R):5'- TACAGAACGGGTGGCTGCAC -3'
|
Posted On |
2015-05-15 |