Incidental Mutation 'R1334:Mon1a'
| ID |
156817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mon1a
|
| Ensembl Gene |
ENSMUSG00000032583 |
| Gene Name |
MON1 homolog A, secretory traffciking associated |
| Synonyms |
2810468K17Rik |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107765350-107780338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 107778562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 262
(N262T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035202]
[ENSMUST00000191906]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035202
AA Change: N262T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035202
Gene: ENSMUSG00000032583
AA Change: N262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mon1
|
151 |
555 |
1.2e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158380
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191906
AA Change: N262T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141516
Gene: ENSMUSG00000032583
AA Change: N262T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mon1
|
146 |
461 |
1.1e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
| Other mutations in Mon1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Mon1a
|
APN |
9 |
107,779,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Mon1a
|
APN |
9 |
107,778,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Mon1a
|
APN |
9 |
107,778,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Mon1a
|
APN |
9 |
107,778,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1708:Mon1a
|
UTSW |
9 |
107,775,917 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1753:Mon1a
|
UTSW |
9 |
107,778,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3774:Mon1a
|
UTSW |
9 |
107,778,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Mon1a
|
UTSW |
9 |
107,779,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Mon1a
|
UTSW |
9 |
107,779,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Mon1a
|
UTSW |
9 |
107,775,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5636:Mon1a
|
UTSW |
9 |
107,778,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Mon1a
|
UTSW |
9 |
107,777,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Mon1a
|
UTSW |
9 |
107,778,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Mon1a
|
UTSW |
9 |
107,777,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7820:Mon1a
|
UTSW |
9 |
107,778,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Mon1a
|
UTSW |
9 |
107,775,993 (GRCm39) |
missense |
probably benign |
|
|
R9083:Mon1a
|
UTSW |
9 |
107,779,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Mon1a
|
UTSW |
9 |
107,778,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF009:Mon1a
|
UTSW |
9 |
107,778,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACAAGGTAGTATTCGTGCGCC -3'
(R):5'- TGCAAAGAAGTCCTCACGGTCAG -3'
Sequencing Primer
(F):5'- TATTCGTGCGCCGGAGC -3'
(R):5'- TGAACTTTGGCAGGCACAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation