Incidental Mutation 'R8424:Alx4'
| ID |
653335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alx4
|
| Ensembl Gene |
ENSMUSG00000040310 |
| Gene Name |
aristaless-like homeobox 4 |
| Synonyms |
Aristaless-like 4 |
| MMRRC Submission |
067818-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.656)
|
| Stock # |
R8424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
93472779-93511686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93507814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 370
(M370V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042078]
[ENSMUST00000111254]
[ENSMUST00000184931]
|
| AlphaFold |
O35137 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042078
AA Change: M370V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: M370V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
108 |
N/A |
INTRINSIC |
|
HOX
|
202 |
264 |
1.11e-28 |
SMART |
|
low complexity region
|
302 |
319 |
N/A |
INTRINSIC |
|
Pfam:OAR
|
375 |
393 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111254
|
| SMART Domains |
Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
108 |
N/A |
INTRINSIC |
|
HOX
|
202 |
264 |
1.11e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184931
|
| SMART Domains |
Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
24 |
46 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
100 |
380 |
1.4e-57 |
PFAM |
|
Pfam:Glyco_transf_64
|
456 |
559 |
9.5e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
PHENOTYPE: Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, knock-out(1) Spontaneous(1) Chemically induced(3) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,946,885 (GRCm39) |
P42S |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,416,538 (GRCm39) |
T694A |
unknown |
Het |
| Adar |
C |
T |
3: 89,643,301 (GRCm39) |
P394L |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,365,830 (GRCm39) |
L1089Q |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,365,721 (GRCm39) |
Y1155C |
probably benign |
Het |
| Cbl |
G |
A |
9: 44,064,151 (GRCm39) |
T795I |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,726,526 (GRCm39) |
A349S |
probably benign |
Het |
| Cdh5 |
G |
A |
8: 104,856,003 (GRCm39) |
R312H |
probably benign |
Het |
| Cdk5rap1 |
T |
C |
2: 154,187,932 (GRCm39) |
T465A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,741,906 (GRCm39) |
T114I |
possibly damaging |
Het |
| Csrp1 |
T |
C |
1: 135,667,188 (GRCm39) |
V17A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,777,804 (GRCm39) |
S105P |
probably benign |
Het |
| Dgki |
C |
A |
6: 36,827,850 (GRCm39) |
V1016L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,829,836 (GRCm39) |
N746S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,841,144 (GRCm39) |
V1796E |
unknown |
Het |
| Fam83a |
T |
A |
15: 57,873,046 (GRCm39) |
S292T |
possibly damaging |
Het |
| H2ac4 |
A |
G |
13: 23,935,267 (GRCm39) |
Y51C |
probably damaging |
Het |
| Keap1 |
C |
A |
9: 21,142,086 (GRCm39) |
R596L |
probably benign |
Het |
| Klhl5 |
A |
C |
5: 65,320,305 (GRCm39) |
T620P |
probably benign |
Het |
| Lbhd1 |
T |
A |
19: 8,861,341 (GRCm39) |
D16E |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,083,414 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ncbp1 |
A |
T |
4: 46,144,839 (GRCm39) |
H30L |
probably benign |
Het |
| Or5ac21 |
A |
T |
16: 59,123,772 (GRCm39) |
L85F |
possibly damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,023,902 (GRCm39) |
|
probably benign |
Het |
| Rc3h1 |
C |
T |
1: 160,793,342 (GRCm39) |
L1076F |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,672,239 (GRCm39) |
I1431V |
possibly damaging |
Het |
| S100a7a |
T |
A |
3: 90,562,868 (GRCm39) |
H18Q |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,296 (GRCm39) |
T340A |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,126,644 (GRCm39) |
E1227G |
probably benign |
Het |
| Sh3yl1 |
G |
A |
12: 30,974,862 (GRCm39) |
R71H |
probably damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,836 (GRCm39) |
S117P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,141,560 (GRCm39) |
V1780A |
probably benign |
Het |
| Sting1 |
A |
C |
18: 35,872,223 (GRCm39) |
I93S |
probably benign |
Het |
| Tas2r130 |
T |
G |
6: 131,607,790 (GRCm39) |
T2P |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,566,316 (GRCm39) |
F1454I |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,566,317 (GRCm39) |
F1454S |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,555,205 (GRCm39) |
S793P |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,928,338 (GRCm39) |
D535E |
probably damaging |
Het |
| Ube2h |
A |
G |
6: 30,260,940 (GRCm39) |
S65P |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,709,004 (GRCm39) |
S262P |
probably damaging |
Het |
| Wfdc8 |
A |
G |
2: 164,445,078 (GRCm39) |
F179S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,911,388 (GRCm39) |
T2153A |
unknown |
Het |
| Zfhx3 |
G |
T |
8: 109,583,385 (GRCm39) |
G1084V |
probably damaging |
Het |
| Zfp273 |
A |
G |
13: 67,970,471 (GRCm39) |
N40D |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,112,480 (GRCm39) |
P207S |
possibly damaging |
Het |
| Zfp952 |
T |
A |
17: 33,222,191 (GRCm39) |
F223L |
probably benign |
Het |
|
| Other mutations in Alx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01872:Alx4
|
APN |
2 |
93,507,818 (GRCm39) |
missense |
probably benign |
0.10 |
|
goofy
|
UTSW |
2 |
93,505,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Luxoid
|
UTSW |
2 |
93,505,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4519001:Alx4
|
UTSW |
2 |
93,505,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0367:Alx4
|
UTSW |
2 |
93,498,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Alx4
|
UTSW |
2 |
93,498,702 (GRCm39) |
nonsense |
probably null |
|
|
R0864:Alx4
|
UTSW |
2 |
93,473,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Alx4
|
UTSW |
2 |
93,505,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Alx4
|
UTSW |
2 |
93,473,134 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4619:Alx4
|
UTSW |
2 |
93,473,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5018:Alx4
|
UTSW |
2 |
93,507,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5227:Alx4
|
UTSW |
2 |
93,507,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6505:Alx4
|
UTSW |
2 |
93,498,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Alx4
|
UTSW |
2 |
93,473,202 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7792:Alx4
|
UTSW |
2 |
93,473,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Alx4
|
UTSW |
2 |
93,505,696 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8697:Alx4
|
UTSW |
2 |
93,505,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Alx4
|
UTSW |
2 |
93,473,355 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9218:Alx4
|
UTSW |
2 |
93,473,172 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9674:Alx4
|
UTSW |
2 |
93,507,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Alx4
|
UTSW |
2 |
93,473,001 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATCCTGGATTGGCAAC -3'
(R):5'- AGGGACAAGAGCCTACCATC -3'
Sequencing Primer
(F):5'- AACAATGGGGCTGCCTC -3'
(R):5'- CTGAAAGTGCTGAGGGCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation