Incidental Mutation 'IGL03079:Alx1'
| ID |
417795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alx1
|
| Ensembl Gene |
ENSMUSG00000036602 |
| Gene Name |
ALX homeobox 1 |
| Synonyms |
Cart1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
102843708-102865501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102845209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 274
(H274L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040859]
[ENSMUST00000167156]
[ENSMUST00000217946]
[ENSMUST00000218282]
[ENSMUST00000218681]
[ENSMUST00000219194]
|
| AlphaFold |
Q8C8B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040859
AA Change: H274L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: H274L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
132 |
194 |
1.84e-25 |
SMART |
|
Pfam:OAR
|
301 |
321 |
7.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164226
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167156
AA Change: H274L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: H274L
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
132 |
194 |
1.84e-25 |
SMART |
|
Pfam:OAR
|
302 |
320 |
2.3e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217946
AA Change: H274L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218282
AA Change: H274L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218681
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219194
AA Change: H274L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality with acrania and meroanencephaly, but the neural tube closure defect can be ameliorated with prenatal folic acid treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl6ip4 |
A |
T |
5: 124,254,990 (GRCm39) |
H59L |
possibly damaging |
Het |
| C1ra |
A |
G |
6: 124,496,794 (GRCm39) |
Y410C |
probably damaging |
Het |
| Ceacam11 |
A |
G |
7: 17,712,361 (GRCm39) |
N270S |
probably benign |
Het |
| Cmtr1 |
T |
A |
17: 29,882,267 (GRCm39) |
N39K |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,209 (GRCm39) |
D293G |
possibly damaging |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,167 (GRCm39) |
E260G |
probably damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,090,068 (GRCm39) |
W700* |
probably null |
Het |
| Efemp2 |
G |
T |
19: 5,525,155 (GRCm39) |
L20F |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,556 (GRCm39) |
L289F |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,341,662 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
A |
T |
3: 88,020,477 (GRCm39) |
M374L |
probably benign |
Het |
| Lrig2 |
A |
T |
3: 104,398,287 (GRCm39) |
W281R |
probably damaging |
Het |
| Lyg2 |
C |
T |
1: 37,946,727 (GRCm39) |
E185K |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,311,144 (GRCm39) |
S207P |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,583,205 (GRCm39) |
V180E |
probably damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,581 (GRCm39) |
C254S |
possibly damaging |
Het |
| P2rx5 |
A |
G |
11: 73,055,714 (GRCm39) |
D57G |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,997 (GRCm39) |
I1058T |
probably damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,909 (GRCm39) |
M154I |
possibly damaging |
Het |
| Slc3a1 |
T |
A |
17: 85,367,251 (GRCm39) |
Y479* |
probably null |
Het |
| Tamalin |
T |
C |
15: 101,128,448 (GRCm39) |
V162A |
probably damaging |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,923,332 (GRCm39) |
Y270H |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,382,247 (GRCm39) |
E1986G |
possibly damaging |
Het |
| Zfp719 |
A |
G |
7: 43,240,590 (GRCm39) |
Y726C |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,195,423 (GRCm39) |
E7G |
probably damaging |
Het |
|
| Other mutations in Alx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02331:Alx1
|
APN |
10 |
102,858,160 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02508:Alx1
|
APN |
10 |
102,858,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1345:Alx1
|
UTSW |
10 |
102,864,353 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1370:Alx1
|
UTSW |
10 |
102,864,353 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1846:Alx1
|
UTSW |
10 |
102,861,165 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1912:Alx1
|
UTSW |
10 |
102,861,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Alx1
|
UTSW |
10 |
102,845,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4767:Alx1
|
UTSW |
10 |
102,861,047 (GRCm39) |
nonsense |
probably null |
|
|
R5484:Alx1
|
UTSW |
10 |
102,861,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5979:Alx1
|
UTSW |
10 |
102,858,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Alx1
|
UTSW |
10 |
102,864,304 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6919:Alx1
|
UTSW |
10 |
102,861,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Alx1
|
UTSW |
10 |
102,845,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8166:Alx1
|
UTSW |
10 |
102,845,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8238:Alx1
|
UTSW |
10 |
102,858,076 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8275:Alx1
|
UTSW |
10 |
102,864,250 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9219:Alx1
|
UTSW |
10 |
102,858,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9323:Alx1
|
UTSW |
10 |
102,858,124 (GRCm39) |
nonsense |
probably null |
|
|
R9482:Alx1
|
UTSW |
10 |
102,864,335 (GRCm39) |
missense |
probably benign |
|
|
R9654:Alx1
|
UTSW |
10 |
102,858,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation