Incidental Mutation 'R5226:Recql4'
| ID |
402635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Recql4
|
| Ensembl Gene |
ENSMUSG00000033762 |
| Gene Name |
RecQ protein-like 4 |
| Synonyms |
|
| MMRRC Submission |
042799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5226 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76594329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 63
(E63G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230724]
[ENSMUST00000155735]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000142610]
|
| 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 benign
Transcript: ENSMUST00000036852
AA Change: E63G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: E63G
| 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: ENSMUST00000230724
AA Change: E63G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: ENSMUST00000230544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| 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 |
|
| Meta Mutation Damage Score |
0.0868 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,056,706 (GRCm39) |
K98E |
possibly damaging |
Het |
| 4933414I15Rik |
A |
T |
11: 50,833,416 (GRCm39) |
M62K |
unknown |
Het |
| Akr1d1 |
T |
A |
6: 37,512,949 (GRCm39) |
|
probably null |
Het |
| Ankrd63 |
T |
C |
2: 118,533,736 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,985,888 (GRCm39) |
V325A |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,067,031 (GRCm39) |
N1025K |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,638,767 (GRCm39) |
V302L |
probably benign |
Het |
| Bend7 |
C |
A |
2: 4,757,789 (GRCm39) |
S277* |
probably null |
Het |
| Btnl7-ps |
A |
T |
17: 34,752,261 (GRCm39) |
|
noncoding transcript |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ctla2b |
C |
T |
13: 61,044,146 (GRCm39) |
W63* |
probably null |
Het |
| Cux1 |
T |
C |
5: 136,399,027 (GRCm39) |
T170A |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,302,507 (GRCm39) |
V101A |
probably benign |
Het |
| Dao |
A |
T |
5: 114,159,094 (GRCm39) |
T267S |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,746 (GRCm39) |
D883G |
probably damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,290 (GRCm39) |
T38A |
possibly damaging |
Het |
| Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
| Elf3 |
G |
A |
1: 135,184,977 (GRCm39) |
L70F |
probably benign |
Het |
| Epb41l4a |
C |
T |
18: 33,943,366 (GRCm39) |
D510N |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,726,126 (GRCm39) |
S594P |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr132 |
T |
C |
12: 112,815,768 (GRCm39) |
T353A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,932,235 (GRCm39) |
D1343G |
probably benign |
Het |
| L3mbtl4 |
T |
A |
17: 69,071,717 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
A |
G |
14: 36,794,310 (GRCm39) |
E458G |
probably damaging |
Het |
| Man1c1 |
A |
T |
4: 134,305,680 (GRCm39) |
I348N |
probably damaging |
Het |
| Map4k2 |
A |
G |
19: 6,396,534 (GRCm39) |
|
probably benign |
Het |
| Nt5c2 |
A |
C |
19: 46,887,068 (GRCm39) |
Y203D |
probably damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,665 (GRCm39) |
S181P |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,416 (GRCm39) |
C400R |
probably benign |
Het |
| Pcdhgb7 |
T |
C |
18: 37,885,577 (GRCm39) |
V249A |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,304,613 (GRCm39) |
I273F |
possibly damaging |
Het |
| Plin1 |
A |
G |
7: 79,372,447 (GRCm39) |
V64A |
probably damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,232,024 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
C |
5: 99,124,321 (GRCm39) |
D376E |
possibly damaging |
Het |
| Ptgir |
T |
A |
7: 16,642,645 (GRCm39) |
I82N |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,763,458 (GRCm39) |
P205L |
possibly damaging |
Het |
| Rab26 |
T |
A |
17: 24,753,107 (GRCm39) |
|
probably benign |
Het |
| Rora |
T |
A |
9: 69,271,423 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
A |
C |
1: 4,418,256 (GRCm39) |
M952R |
probably benign |
Het |
| Rpap3 |
T |
A |
15: 97,601,104 (GRCm39) |
R44S |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,012,092 (GRCm39) |
P72T |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,671,709 (GRCm39) |
V416M |
probably damaging |
Het |
| Slfn4 |
A |
T |
11: 83,078,375 (GRCm39) |
M388L |
possibly damaging |
Het |
| Snrnp48 |
G |
A |
13: 38,389,093 (GRCm39) |
A49T |
probably benign |
Het |
| Tlx2 |
C |
T |
6: 83,045,911 (GRCm39) |
G228D |
possibly damaging |
Het |
| Tmem132a |
A |
G |
19: 10,844,508 (GRCm39) |
V30A |
possibly damaging |
Het |
| Tnfrsf23 |
C |
A |
7: 143,239,522 (GRCm39) |
L24F |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,294,196 (GRCm39) |
N312K |
probably benign |
Het |
| Vmn1r115 |
C |
T |
7: 20,578,169 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,029,874 (GRCm39) |
T567A |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,852,835 (GRCm39) |
T2372A |
probably benign |
Het |
| Wnt10b |
G |
T |
15: 98,674,495 (GRCm39) |
H81N |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,505 (GRCm39) |
T566A |
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 |
|
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 |
|
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'- CCTAGACCAGTTTAAAAGATGGC -3'
(R):5'- ACAAGCTTCTCTCCTAGGGG -3'
Sequencing Primer
(F):5'- CCAGTTTAAAAGATGGCATGGGC -3'
(R):5'- AGCTTCTCTCCTAGGGGGATGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation