Incidental Mutation 'R5550:Henmt1'
| ID |
435080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Henmt1
|
| Ensembl Gene |
ENSMUSG00000045662 |
| Gene Name |
HEN1 methyltransferase homolog 1 (Arabidopsis) |
| Synonyms |
Hen1, 4921515J06Rik |
| MMRRC Submission |
043107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.320)
|
| Stock # |
R5550 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108847375-108868090 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108861184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 69
(Y69C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059946]
[ENSMUST00000098680]
[ENSMUST00000106586]
[ENSMUST00000196400]
[ENSMUST00000196533]
|
| AlphaFold |
Q8CAE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059946
AA Change: Y112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054829
Gene: ENSMUSG00000045662
AA Change: Y112C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
32 |
207 |
4.8e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098680
AA Change: Y112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096277
Gene: ENSMUSG00000045662
AA Change: Y112C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
32 |
206 |
6.1e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106586
AA Change: Y112C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102196
Gene: ENSMUSG00000045662
AA Change: Y112C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_23
|
32 |
206 |
1.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196400
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143561
Gene: ENSMUSG00000045662
AA Change: Y69C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3HTX|D
|
9 |
90 |
7e-7 |
PDB |
|
SCOP:d1khha_
|
9 |
90 |
9e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196533
AA Change: Y69C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143574
Gene: ENSMUSG00000045662
AA Change: Y69C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3JWG|A
|
8 |
192 |
2e-34 |
PDB |
|
SCOP:d1fp2a2
|
9 |
154 |
5e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele exhibit male infertility, pinhead sperm, decreased testis weight, ologospermia and asthenozoospermia. Female fertility is normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
| Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
| Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
| Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
| Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
| Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
| Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
| Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
| Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly damaging |
Het |
|
| Other mutations in Henmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Henmt1
|
APN |
3 |
108,850,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Henmt1
|
UTSW |
3 |
108,861,105 (GRCm39) |
splice site |
probably benign |
|
|
R0143:Henmt1
|
UTSW |
3 |
108,861,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0391:Henmt1
|
UTSW |
3 |
108,865,851 (GRCm39) |
splice site |
probably benign |
|
|
R4035:Henmt1
|
UTSW |
3 |
108,866,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Henmt1
|
UTSW |
3 |
108,850,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5162:Henmt1
|
UTSW |
3 |
108,847,366 (GRCm39) |
splice site |
probably null |
|
|
R5270:Henmt1
|
UTSW |
3 |
108,867,530 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7629:Henmt1
|
UTSW |
3 |
108,865,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8341:Henmt1
|
UTSW |
3 |
108,865,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Henmt1
|
UTSW |
3 |
108,864,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Henmt1
|
UTSW |
3 |
108,867,652 (GRCm39) |
makesense |
probably null |
|
|
R9512:Henmt1
|
UTSW |
3 |
108,867,445 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0063:Henmt1
|
UTSW |
3 |
108,867,636 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCTCGTTTAGCTGGGTAAG -3'
(R):5'- AAGAGACTCGTTAACAGCTGGC -3'
Sequencing Primer
(F):5'- GGTAAGCCCTCGTTTGCCAC -3'
(R):5'- GGAATTCCCAAGTAAAATGCTAAAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation