Incidental Mutation 'R5064:Ascl2'
| ID |
459863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ascl2
|
| Ensembl Gene |
ENSMUSG00000009248 |
| Gene Name |
achaete-scute family bHLH transcription factor 2 |
| Synonyms |
2410083I15Rik, bHLHa45, Mash2 |
| MMRRC Submission |
042654-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5064 (G1)
|
| Quality Score |
67 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142520566-142523001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142521996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 151
(N151D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009392]
[ENSMUST00000121862]
|
| AlphaFold |
O35885 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009392
AA Change: N151D
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000009392
Gene: ENSMUSG00000009248
AA Change: N151D
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
124 |
176 |
3.06e-19 |
SMART |
|
low complexity region
|
182 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121862
AA Change: N83D
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113012
Gene: ENSMUSG00000009248
AA Change: N83D
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
56 |
108 |
3.06e-19 |
SMART |
|
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.1%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele or heterozygous for a maternally inherited allele exhibit embryonic lethality during organogenesis associated with abnormal embryogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,340,119 (GRCm39) |
V1082A |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,883 (GRCm39) |
Y1496N |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,649,076 (GRCm39) |
S355I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,448,278 (GRCm39) |
Q127R |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,045,187 (GRCm39) |
I401N |
possibly damaging |
Het |
| Eml6 |
C |
T |
11: 29,699,300 (GRCm39) |
V1818I |
probably benign |
Het |
| Grin1 |
G |
T |
2: 25,193,843 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,140,100 (GRCm39) |
R244H |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mllt6 |
C |
A |
11: 97,564,775 (GRCm39) |
A527E |
probably damaging |
Het |
| Msh5 |
G |
T |
17: 35,262,759 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 62,959,150 (GRCm39) |
D1057V |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,469,167 (GRCm39) |
|
probably null |
Het |
| Nat8l |
T |
C |
5: 34,154,213 (GRCm39) |
V9A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,565,410 (GRCm39) |
I247V |
probably benign |
Het |
| Nr1h2 |
G |
A |
7: 44,201,073 (GRCm39) |
A219V |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,165,354 (GRCm39) |
H663Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Plppr1 |
A |
T |
4: 49,319,974 (GRCm39) |
H200L |
probably benign |
Het |
| Por |
T |
C |
5: 135,762,649 (GRCm39) |
V421A |
probably benign |
Het |
| Pxylp1 |
T |
G |
9: 96,736,853 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,448 (GRCm39) |
V74I |
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,239,588 (GRCm39) |
I37T |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,330,951 (GRCm39) |
T1397N |
possibly damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,785,946 (GRCm39) |
|
probably null |
Het |
| Vmn1r55 |
A |
T |
7: 5,149,928 (GRCm39) |
M165K |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,534 (GRCm39) |
M787K |
probably damaging |
Het |
| Vta1 |
G |
T |
10: 14,581,222 (GRCm39) |
|
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,080 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ascl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Ascl2
|
APN |
7 |
142,522,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0466:Ascl2
|
UTSW |
7 |
142,522,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1909:Ascl2
|
UTSW |
7 |
142,521,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2511:Ascl2
|
UTSW |
7 |
142,521,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Ascl2
|
UTSW |
7 |
142,521,708 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5344:Ascl2
|
UTSW |
7 |
142,522,436 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7761:Ascl2
|
UTSW |
7 |
142,521,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8172:Ascl2
|
UTSW |
7 |
142,522,336 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9274:Ascl2
|
UTSW |
7 |
142,521,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTTCCTCCGACGAGTAG -3'
(R):5'- AAGCGTCTCCGGAATTGCTG -3'
Sequencing Primer
(F):5'- CAGGACAGAGACGCGCTG -3'
(R):5'- TCCGGAATTGCTGCGCTG -3'
|
| Posted On |
2017-02-27 |
Incidental Mutation