Incidental Mutation 'R5875:Helq'
| ID |
455456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
044082-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5875 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 100944336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 258
(I258S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016977]
[ENSMUST00000044684]
[ENSMUST00000112898]
[ENSMUST00000112901]
[ENSMUST00000151201]
[ENSMUST00000198453]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016977
|
| SMART Domains |
Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
70 |
121 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: I258S
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: I258S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
291 |
486 |
3.05e-17 |
SMART |
|
HELICc
|
585 |
671 |
2.54e-14 |
SMART |
|
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112901
|
| SMART Domains |
Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
67 |
119 |
9.6e-25 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133845
AA Change: I256S
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: I256S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
DEXDc
|
290 |
485 |
3.05e-17 |
SMART |
|
HELICc
|
584 |
670 |
2.54e-14 |
SMART |
|
low complexity region
|
811 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144948
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151201
AA Change: I258S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266
AA Change: I258S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198453
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced fertility and increased incident of tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
A |
G |
2: 127,028,737 (GRCm39) |
V154A |
possibly damaging |
Het |
| Abcc1 |
A |
G |
16: 14,284,901 (GRCm39) |
E1250G |
possibly damaging |
Het |
| Ajap1 |
A |
C |
4: 153,516,798 (GRCm39) |
I181R |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,127,285 (GRCm39) |
Y3711C |
probably benign |
Het |
| Ark2c |
T |
C |
18: 77,650,877 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
T |
C |
10: 88,577,841 (GRCm39) |
S137P |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,793,391 (GRCm39) |
V583I |
probably benign |
Het |
| Cdca7 |
T |
A |
2: 72,313,901 (GRCm39) |
M230K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,464 (GRCm39) |
D2841V |
probably damaging |
Het |
| Chp1 |
T |
A |
2: 119,402,296 (GRCm39) |
F90Y |
probably damaging |
Het |
| Ckap5 |
A |
G |
2: 91,391,206 (GRCm39) |
T345A |
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,628,650 (GRCm39) |
S352R |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,231,692 (GRCm39) |
V1132A |
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,677,266 (GRCm39) |
|
probably null |
Het |
| Crhbp |
A |
G |
13: 95,580,304 (GRCm39) |
F99L |
probably benign |
Het |
| Dnmt3l |
A |
T |
10: 77,889,772 (GRCm39) |
M210L |
probably benign |
Het |
| Dyrk2 |
T |
A |
10: 118,696,602 (GRCm39) |
R219W |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,916,542 (GRCm39) |
I78T |
probably damaging |
Het |
| Exosc9 |
T |
C |
3: 36,615,342 (GRCm39) |
|
probably null |
Het |
| Frmd5 |
A |
G |
2: 121,388,959 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
T |
C |
6: 88,179,473 (GRCm39) |
L315P |
probably damaging |
Het |
| Gm17067 |
G |
A |
7: 42,357,470 (GRCm39) |
T344I |
probably benign |
Het |
| Gm4884 |
A |
T |
7: 40,692,360 (GRCm39) |
T110S |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,721 (GRCm39) |
E56G |
probably benign |
Het |
| Hoxd10 |
T |
C |
2: 74,522,426 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Inpp5b |
T |
C |
4: 124,674,199 (GRCm39) |
V302A |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,645,696 (GRCm39) |
I1027N |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,129,138 (GRCm39) |
S482G |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,487 (GRCm39) |
V902I |
probably benign |
Het |
| Jkampl |
T |
C |
6: 73,446,028 (GRCm39) |
I174V |
possibly damaging |
Het |
| Kctd16 |
T |
A |
18: 40,390,447 (GRCm39) |
|
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,458,918 (GRCm39) |
N971S |
probably benign |
Het |
| Klra17 |
T |
C |
6: 129,851,791 (GRCm39) |
D27G |
probably benign |
Het |
| Leo1 |
G |
C |
9: 75,357,842 (GRCm39) |
R412S |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,846,128 (GRCm39) |
N348S |
probably benign |
Het |
| Lpp |
G |
A |
16: 24,427,059 (GRCm39) |
G62E |
probably benign |
Het |
| Lyn |
G |
A |
4: 3,745,631 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,326,107 (GRCm39) |
N5128I |
possibly damaging |
Het |
| Mapk7 |
T |
A |
11: 61,384,524 (GRCm39) |
I61L |
probably benign |
Het |
| Mindy1 |
T |
C |
3: 95,202,125 (GRCm39) |
V334A |
probably damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,189 (GRCm39) |
T396I |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,840,973 (GRCm39) |
|
probably null |
Het |
| Noc4l |
A |
C |
5: 110,799,176 (GRCm39) |
|
probably null |
Het |
| Oas1c |
A |
G |
5: 120,943,627 (GRCm39) |
Y171H |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,730,614 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
G |
A |
5: 21,947,944 (GRCm39) |
E216K |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,639,731 (GRCm39) |
R137Q |
possibly damaging |
Het |
| Ptprb |
T |
G |
10: 116,184,071 (GRCm39) |
W1628G |
probably benign |
Het |
| Ranbp3 |
T |
A |
17: 57,014,955 (GRCm39) |
|
probably null |
Het |
| Sart1 |
T |
C |
19: 5,433,823 (GRCm39) |
D338G |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,870,703 (GRCm39) |
Y251* |
probably null |
Het |
| Sdk2 |
G |
T |
11: 113,720,885 (GRCm39) |
T1348K |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,323,379 (GRCm39) |
Y1272H |
probably damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,903 (GRCm39) |
L432Q |
probably damaging |
Het |
| Susd1 |
A |
T |
4: 59,412,203 (GRCm39) |
F117I |
possibly damaging |
Het |
| Taf5 |
A |
T |
19: 47,064,549 (GRCm39) |
Y465F |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,630 (GRCm39) |
M1L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,178,058 (GRCm39) |
D193G |
possibly damaging |
Het |
| Tex56 |
T |
G |
13: 35,116,429 (GRCm39) |
C59W |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,465 (GRCm39) |
P73L |
probably damaging |
Het |
| Tm6sf2 |
A |
G |
8: 70,528,039 (GRCm39) |
D86G |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,442,977 (GRCm39) |
H481L |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,650,534 (GRCm39) |
V1763I |
probably damaging |
Het |
| Ubxn1 |
T |
C |
19: 8,849,584 (GRCm39) |
S75P |
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,066,702 (GRCm39) |
K709E |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,092 (GRCm39) |
Y74N |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,335,424 (GRCm39) |
E81G |
probably benign |
Het |
| Zbtb45 |
A |
G |
7: 12,742,237 (GRCm39) |
V7A |
possibly damaging |
Het |
| Zfp668 |
C |
A |
7: 127,465,474 (GRCm39) |
R570L |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,636,390 (GRCm39) |
M125K |
possibly damaging |
Het |
| Zmiz2 |
T |
C |
11: 6,355,072 (GRCm39) |
L913P |
probably damaging |
Het |
|
| Other mutations in Helq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Helq
|
APN |
5 |
100,912,948 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02142:Helq
|
APN |
5 |
100,930,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02172:Helq
|
APN |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02234:Helq
|
APN |
5 |
100,944,336 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03086:Helq
|
APN |
5 |
100,944,793 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0083:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
|
R0108:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
|
R0276:Helq
|
UTSW |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0383:Helq
|
UTSW |
5 |
100,927,031 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0554:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1289:Helq
|
UTSW |
5 |
100,944,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1682:Helq
|
UTSW |
5 |
100,940,679 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1800:Helq
|
UTSW |
5 |
100,921,990 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1809:Helq
|
UTSW |
5 |
100,921,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1838:Helq
|
UTSW |
5 |
100,919,745 (GRCm39) |
nonsense |
probably null |
|
|
R3086:Helq
|
UTSW |
5 |
100,921,858 (GRCm39) |
missense |
probably benign |
|
|
R3439:Helq
|
UTSW |
5 |
100,946,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3735:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3736:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4172:Helq
|
UTSW |
5 |
100,919,713 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4835:Helq
|
UTSW |
5 |
100,922,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4855:Helq
|
UTSW |
5 |
100,931,025 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4908:Helq
|
UTSW |
5 |
100,910,507 (GRCm39) |
splice site |
probably null |
|
|
R4973:Helq
|
UTSW |
5 |
100,940,737 (GRCm39) |
intron |
probably benign |
|
|
R5561:Helq
|
UTSW |
5 |
100,934,916 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5583:Helq
|
UTSW |
5 |
100,910,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5608:Helq
|
UTSW |
5 |
100,938,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Helq
|
UTSW |
5 |
100,933,170 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6302:Helq
|
UTSW |
5 |
100,946,305 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6344:Helq
|
UTSW |
5 |
100,914,594 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6446:Helq
|
UTSW |
5 |
100,916,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6825:Helq
|
UTSW |
5 |
100,940,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Helq
|
UTSW |
5 |
100,939,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7323:Helq
|
UTSW |
5 |
100,931,051 (GRCm39) |
frame shift |
probably null |
|
|
R7535:Helq
|
UTSW |
5 |
100,937,999 (GRCm39) |
splice site |
probably null |
|
|
R7889:Helq
|
UTSW |
5 |
100,940,427 (GRCm39) |
splice site |
probably null |
|
|
R8243:Helq
|
UTSW |
5 |
100,918,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8720:Helq
|
UTSW |
5 |
100,914,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Helq
|
UTSW |
5 |
100,926,598 (GRCm39) |
unclassified |
probably benign |
|
|
R9152:Helq
|
UTSW |
5 |
100,918,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9209:Helq
|
UTSW |
5 |
100,939,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Helq
|
UTSW |
5 |
100,939,218 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9223:Helq
|
UTSW |
5 |
100,946,303 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9301:Helq
|
UTSW |
5 |
100,927,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Helq
|
UTSW |
5 |
100,934,927 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Helq
|
UTSW |
5 |
100,914,632 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCACCTGCTTCCACTGATTTG -3'
(R):5'- ATGAAGAGTTGGTCTCCAGCC -3'
Sequencing Primer
(F):5'- TGCTTCCACTGATTTGGTTTAATAC -3'
(R):5'- TTGGTCTCCAGCCACACAGAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation