Incidental Mutation 'R6647:Hells'
| ID |
526153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hells
|
| Ensembl Gene |
ENSMUSG00000025001 |
| Gene Name |
helicase, lymphoid specific |
| Synonyms |
E130115I21Rik, proliferation-associated SNF2-like, Lysh, PASG, LSH, YFK8 |
| MMRRC Submission |
044768-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6647 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38919359-38959495 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38919948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 33
(L33I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025965]
[ENSMUST00000145051]
|
| AlphaFold |
Q60848 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025965
AA Change: L33I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025965
Gene: ENSMUSG00000025001
AA Change: L33I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
40 |
144 |
4e-22 |
BLAST |
|
DEXDc
|
202 |
394 |
7.04e-31 |
SMART |
|
HELICc
|
612 |
695 |
5.6e-25 |
SMART |
|
low complexity region
|
775 |
791 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145051
AA Change: L33I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116710
Gene: ENSMUSG00000025001
AA Change: L33I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
40 |
144 |
5e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155465
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele show DNA hypomethylation, delayed growth, multiorgan and skeletal defects, premature graying, alopecia, low fat deposition, kyphosis, cachexia and early death. Homozygotes for another null allele show neonatal death, low birth weight, lymphoid defects and renal lesions. [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 |
|---|
| Agl |
T |
C |
3: 116,544,060 (GRCm39) |
T1416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,518,494 (GRCm39) |
S103P |
probably damaging |
Het |
| Ces1h |
A |
C |
8: 94,078,654 (GRCm39) |
*563G |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,669,086 (GRCm39) |
A339E |
probably benign |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,785,324 (GRCm39) |
H231R |
possibly damaging |
Het |
| Ddx31 |
A |
T |
2: 28,765,750 (GRCm39) |
T483S |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,201 (GRCm39) |
D60V |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,403,633 (GRCm39) |
A3453T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,115,743 (GRCm39) |
F1500I |
probably damaging |
Het |
| Eprs1 |
C |
T |
1: 185,146,621 (GRCm39) |
A1217V |
probably damaging |
Het |
| Ermp1 |
T |
C |
19: 29,604,335 (GRCm39) |
Y481C |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,420,670 (GRCm39) |
N635K |
unknown |
Het |
| Fras1 |
A |
G |
5: 96,883,061 (GRCm39) |
D2531G |
probably damaging |
Het |
| Frat1 |
C |
T |
19: 41,819,264 (GRCm39) |
Q220* |
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,123,103 (GRCm39) |
|
probably null |
Het |
| Gm3285 |
T |
C |
10: 77,698,447 (GRCm39) |
|
probably benign |
Het |
| Gm9857 |
T |
C |
3: 108,847,379 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
A |
6: 135,710,108 (GRCm39) |
W1146L |
probably damaging |
Het |
| Ift81 |
T |
A |
5: 122,748,229 (GRCm39) |
R54* |
probably null |
Het |
| Ints12 |
G |
A |
3: 132,802,639 (GRCm39) |
R41Q |
possibly damaging |
Het |
| Katnal2 |
C |
T |
18: 77,067,733 (GRCm39) |
E403K |
probably benign |
Het |
| Kcnk1 |
A |
G |
8: 126,722,199 (GRCm39) |
M1V |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,389,422 (GRCm39) |
T950A |
probably benign |
Het |
| Kdr |
G |
A |
5: 76,113,549 (GRCm39) |
A773V |
probably damaging |
Het |
| Lats1 |
G |
C |
10: 7,573,271 (GRCm39) |
M118I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,817,200 (GRCm39) |
I90V |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,852,484 (GRCm39) |
D1064G |
probably benign |
Het |
| Nkx2-4 |
A |
T |
2: 146,926,187 (GRCm39) |
I225N |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,020,740 (GRCm39) |
D409G |
probably benign |
Het |
| Ogfod2 |
G |
C |
5: 124,252,866 (GRCm39) |
R292P |
possibly damaging |
Het |
| Oprk1 |
C |
T |
1: 5,672,507 (GRCm39) |
P215S |
probably damaging |
Het |
| Or5d36 |
A |
T |
2: 87,901,053 (GRCm39) |
F224L |
probably benign |
Het |
| Or6c35 |
T |
A |
10: 129,169,033 (GRCm39) |
C94* |
probably null |
Het |
| Or7g27 |
T |
A |
9: 19,249,925 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,906,210 (GRCm39) |
I174V |
possibly damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,225 (GRCm39) |
K395R |
possibly damaging |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Pycard |
T |
C |
7: 127,592,741 (GRCm39) |
T29A |
probably benign |
Het |
| Rap1gap2 |
G |
A |
11: 74,298,754 (GRCm39) |
A452V |
probably benign |
Het |
| Rasgrf1 |
C |
G |
9: 89,892,516 (GRCm39) |
T1072S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,956 (GRCm39) |
R707* |
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,993,618 (GRCm39) |
I767T |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,450,183 (GRCm39) |
V81A |
probably benign |
Het |
| Shisal2a |
A |
G |
4: 108,225,224 (GRCm39) |
S113P |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,800 (GRCm39) |
S685P |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,372 (GRCm39) |
E904G |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,245,526 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,721,659 (GRCm39) |
N1174Y |
probably damaging |
Het |
| Tas2r138 |
G |
T |
6: 40,589,733 (GRCm39) |
T171K |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,893,999 (GRCm39) |
D77G |
possibly damaging |
Het |
| Vav3 |
A |
T |
3: 109,434,732 (GRCm39) |
H421L |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,841 (GRCm39) |
L215P |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,785 (GRCm39) |
S386R |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,183,089 (GRCm39) |
R233S |
probably benign |
Het |
|
| Other mutations in Hells |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02416:Hells
|
APN |
19 |
38,953,071 (GRCm39) |
missense |
probably benign |
|
|
IGL02639:Hells
|
APN |
19 |
38,926,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
cerberus
|
UTSW |
19 |
38,943,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
charon
|
UTSW |
19 |
38,943,254 (GRCm39) |
missense |
probably benign |
0.15 |
|
erdlischesleben
|
UTSW |
19 |
38,929,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
intentions
|
UTSW |
19 |
38,945,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Hells
|
UTSW |
19 |
38,956,194 (GRCm39) |
missense |
probably benign |
|
|
R1432:Hells
|
UTSW |
19 |
38,945,628 (GRCm39) |
splice site |
probably null |
|
|
R1515:Hells
|
UTSW |
19 |
38,956,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Hells
|
UTSW |
19 |
38,956,227 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1779:Hells
|
UTSW |
19 |
38,935,286 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1851:Hells
|
UTSW |
19 |
38,948,120 (GRCm39) |
missense |
probably null |
1.00 |
|
R1897:Hells
|
UTSW |
19 |
38,928,928 (GRCm39) |
missense |
probably benign |
|
|
R2040:Hells
|
UTSW |
19 |
38,943,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2571:Hells
|
UTSW |
19 |
38,948,177 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4475:Hells
|
UTSW |
19 |
38,933,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Hells
|
UTSW |
19 |
38,945,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Hells
|
UTSW |
19 |
38,923,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Hells
|
UTSW |
19 |
38,932,189 (GRCm39) |
missense |
probably benign |
|
|
R5517:Hells
|
UTSW |
19 |
38,943,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5538:Hells
|
UTSW |
19 |
38,942,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6107:Hells
|
UTSW |
19 |
38,942,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Hells
|
UTSW |
19 |
38,943,254 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6577:Hells
|
UTSW |
19 |
38,919,909 (GRCm39) |
nonsense |
probably null |
|
|
R6618:Hells
|
UTSW |
19 |
38,945,528 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6869:Hells
|
UTSW |
19 |
38,929,079 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7471:Hells
|
UTSW |
19 |
38,945,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8349:Hells
|
UTSW |
19 |
38,940,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Hells
|
UTSW |
19 |
38,947,566 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8449:Hells
|
UTSW |
19 |
38,940,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Hells
|
UTSW |
19 |
38,942,045 (GRCm39) |
frame shift |
probably null |
|
|
R9061:Hells
|
UTSW |
19 |
38,933,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Hells
|
UTSW |
19 |
38,935,289 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1176:Hells
|
UTSW |
19 |
38,953,851 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCCCGAAGTTGGAACTC -3'
(R):5'- TAAGTTGCAACCTACCCCG -3'
Sequencing Primer
(F):5'- AACTCGGGGGTTGTAACTTGAATC -3'
(R):5'- TATCTATCATTCAAAGCCCACGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation