Incidental Mutation 'ANU74:Recql4'
| ID |
262723 |
| 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 # |
ANU74
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76587753-76594748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76589957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 789
(M789K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000230544]
[ENSMUST00000155735]
[ENSMUST00000155225]
[ENSMUST00000142610]
[ENSMUST00000230724]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000036852
AA Change: M789K
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044363
Gene: ENSMUSG00000033762
AA Change: M789K
| 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: M696K
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230468
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000229098
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
A |
5: 50,118,380 (GRCm39) |
S1056L |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,529,736 (GRCm39) |
D236E |
probably benign |
Het |
| Capn15 |
C |
T |
17: 26,184,460 (GRCm39) |
W7* |
probably null |
Het |
| Celsr2 |
G |
A |
3: 108,319,815 (GRCm39) |
T999M |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,069 (GRCm39) |
M912K |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,409 (GRCm39) |
D197G |
unknown |
Het |
| Csf1r |
A |
G |
18: 61,250,463 (GRCm39) |
E431G |
probably benign |
Het |
| Eloc |
A |
G |
1: 16,713,574 (GRCm39) |
F115L |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,378,113 (GRCm39) |
D193G |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,162 (GRCm39) |
Y210H |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,802 (GRCm39) |
T4R |
probably benign |
Het |
| Grb2 |
A |
T |
11: 115,536,733 (GRCm39) |
D131E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,964,853 (GRCm39) |
T658A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,627 (GRCm39) |
E1289G |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,560 (GRCm39) |
N92D |
possibly damaging |
Het |
| Irf8 |
A |
C |
8: 121,466,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
GC |
"GCCTCCACCCGGCGGTC,GCC" |
4: 63,089,663 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
A |
C |
1: 153,007,581 (GRCm39) |
D864E |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,863 (GRCm39) |
V1475A |
probably damaging |
Het |
| Mapk8ip3 |
A |
C |
17: 25,119,551 (GRCm39) |
M1030R |
possibly damaging |
Het |
| Mat1a |
A |
G |
14: 40,833,099 (GRCm39) |
D94G |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,993,295 (GRCm39) |
D1643E |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,769,239 (GRCm39) |
F55L |
probably damaging |
Het |
| Nhlh2 |
A |
T |
3: 101,919,970 (GRCm39) |
M1L |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,978 (GRCm39) |
S1836P |
probably damaging |
Het |
| Olr1 |
G |
A |
6: 129,477,032 (GRCm39) |
R78C |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Pam16 |
C |
A |
16: 4,434,497 (GRCm39) |
V98F |
probably damaging |
Het |
| Pelp1 |
C |
T |
11: 70,285,913 (GRCm39) |
V652I |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,437,236 (GRCm39) |
H67R |
probably benign |
Het |
| Rbms1 |
G |
T |
2: 60,628,060 (GRCm39) |
A60E |
probably damaging |
Het |
| Rrn3 |
T |
C |
16: 13,629,397 (GRCm39) |
F571S |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,575 (GRCm39) |
|
probably null |
Het |
| Sec61b |
C |
A |
4: 47,474,922 (GRCm39) |
N26K |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,395,938 (GRCm39) |
E284G |
probably benign |
Het |
| Slc30a9 |
G |
A |
5: 67,507,195 (GRCm39) |
D496N |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,554 (GRCm39) |
R249H |
probably damaging |
Het |
| Slc6a13 |
A |
C |
6: 121,311,835 (GRCm39) |
D404A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,456 (GRCm39) |
E225G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,893 (GRCm39) |
G1351S |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,890,310 (GRCm39) |
V691A |
probably damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,149 (GRCm39) |
R738Q |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,027,454 (GRCm39) |
I506N |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,452,264 (GRCm39) |
T113I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,366,910 (GRCm39) |
S437T |
probably benign |
Het |
| Vmn2r78 |
G |
C |
7: 86,570,273 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp956 |
T |
G |
6: 47,940,507 (GRCm39) |
Y289D |
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 |
|
|
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 |
|
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'- AATAGGTGGCAATGGGCAGGCTTC -3'
(R):5'- AGCCCACAAGCTGCCATGTTAATC -3'
Sequencing Primer
(F):5'- AATGGGCAGGCTTCCCATC -3'
(R):5'- TTTACTGCACTCGGCGAAAG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation