Incidental Mutation 'R8238:Alx1'
| ID |
637470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alx1
|
| Ensembl Gene |
ENSMUSG00000036602 |
| Gene Name |
ALX homeobox 1 |
| Synonyms |
Cart1 |
| MMRRC Submission |
067670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
102843708-102865501 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102858076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 208
(D208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040859]
[ENSMUST00000167156]
|
| AlphaFold |
Q8C8B0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040859
AA Change: D208N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042512
Gene: ENSMUSG00000036602
AA Change: D208N
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
132 |
194 |
1.84e-25 |
SMART |
|
Pfam:OAR
|
301 |
321 |
7.3e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167156
AA Change: D208N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129230
Gene: ENSMUSG00000036602
AA Change: D208N
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
132 |
194 |
1.84e-25 |
SMART |
|
Pfam:OAR
|
302 |
320 |
2.3e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,103,993 (GRCm39) |
Y551H |
probably damaging |
Het |
| Ak1 |
T |
A |
2: 32,523,681 (GRCm39) |
V198D |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,966,975 (GRCm39) |
E641G |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,019 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cabp5 |
T |
A |
7: 13,139,377 (GRCm39) |
M134K |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,221,764 (GRCm39) |
I227N |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,235,668 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,988,842 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Fgr |
C |
T |
4: 132,724,832 (GRCm39) |
A311V |
probably damaging |
Het |
| Glipr1 |
C |
T |
10: 111,829,345 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
A |
G |
2: 103,898,496 (GRCm39) |
F70L |
probably benign |
Het |
| Gm14412 |
A |
T |
2: 177,007,111 (GRCm39) |
H261Q |
unknown |
Het |
| Hey2 |
T |
A |
10: 30,716,659 (GRCm39) |
M35L |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,857 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ipo5 |
A |
T |
14: 121,172,652 (GRCm39) |
K570M |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,666,912 (GRCm39) |
H404Q |
probably benign |
Het |
| Kif5b |
T |
A |
18: 6,227,619 (GRCm39) |
Q86L |
probably damaging |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,668 (GRCm39) |
I360N |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,003,634 (GRCm39) |
V29E |
probably damaging |
Het |
| Ncstn |
G |
T |
1: 171,900,043 (GRCm39) |
A277E |
probably damaging |
Het |
| Nsun3 |
A |
G |
16: 62,591,076 (GRCm39) |
V189A |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,150,642 (GRCm39) |
D77N |
probably damaging |
Het |
| Or13a27 |
A |
C |
7: 139,925,803 (GRCm39) |
L33W |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,827 (GRCm39) |
T52A |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,366 (GRCm39) |
D138G |
probably damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,557,066 (GRCm39) |
H434P |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,406,568 (GRCm39) |
I121T |
probably benign |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc7a14 |
C |
A |
3: 31,281,300 (GRCm39) |
V337L |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,733,173 (GRCm39) |
G206E |
probably damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,640 (GRCm39) |
T92A |
probably benign |
Het |
| Vmn2r36 |
T |
G |
7: 7,892,015 (GRCm39) |
H431P |
probably benign |
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps11 |
T |
C |
9: 44,264,057 (GRCm39) |
T759A |
probably benign |
Het |
| Xdh |
G |
T |
17: 74,193,412 (GRCm39) |
Q1295K |
probably benign |
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 |
|
IGL03079:Alx1
|
APN |
10 |
102,845,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGCACGAAATTATGGCCAC -3'
(R):5'- ACACGTGGATTCAGTTTGGATG -3'
Sequencing Primer
(F):5'- GGCCACAAATTTTATGACAGGC -3'
(R):5'- CACGTGGATTCAGTTTGGATGTATAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation