Incidental Mutation 'IGL02426:Kdm6a'
| ID |
292908 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kdm6a
|
| Ensembl Gene |
ENSMUSG00000037369 |
| Gene Name |
lysine (K)-specific demethylase 6A |
| Synonyms |
Utx |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
18028814-18146175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18112549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044484]
[ENSMUST00000052368]
[ENSMUST00000223885]
[ENSMUST00000224084]
[ENSMUST00000224255]
|
| AlphaFold |
O70546 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044484
AA Change: E365G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045862
Gene: ENSMUSG00000037369
AA Change: E365G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
TPR
|
95 |
128 |
4.2e-2 |
SMART |
|
TPR
|
132 |
165 |
6.1e-6 |
SMART |
|
TPR
|
207 |
240 |
3.3e-2 |
SMART |
|
TPR
|
286 |
319 |
2.3e-3 |
SMART |
|
TPR
|
320 |
353 |
2e-5 |
SMART |
|
TPR
|
354 |
387 |
7.7e-2 |
SMART |
|
low complexity region
|
814 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
932 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1071 |
N/A |
INTRINSIC |
|
JmjC
|
1095 |
1258 |
3.9e-51 |
SMART |
|
Blast:JmjC
|
1294 |
1358 |
7e-35 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052368
AA Change: E365G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061539
Gene: ENSMUSG00000037369
AA Change: E365G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
TPR
|
95 |
128 |
8.74e0 |
SMART |
|
TPR
|
132 |
165 |
1.3e-3 |
SMART |
|
TPR
|
207 |
240 |
7.01e0 |
SMART |
|
TPR
|
286 |
319 |
4.69e-1 |
SMART |
|
TPR
|
320 |
353 |
4.21e-3 |
SMART |
|
TPR
|
354 |
387 |
1.6e1 |
SMART |
|
low complexity region
|
814 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
932 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1071 |
N/A |
INTRINSIC |
|
JmjC
|
1095 |
1258 |
1.08e-48 |
SMART |
|
Blast:JmjC
|
1294 |
1358 |
9e-35 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130978
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223885
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224084
AA Change: E13G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224255
AA Change: E45G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225336
AA Change: E5G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226046
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, caudal body truncation, abnormal neural tube closure and abnormal heart development. Mice hemizygous for this allele exhibit perinatal lethality, abnormal neural tube closure, inability to breath, exencephaly and atelectasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
| Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
| Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,767,987 (GRCm39) |
S182P |
probably benign |
Het |
| Cmklr2 |
T |
C |
1: 63,222,827 (GRCm39) |
Y136C |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,322 (GRCm39) |
M211V |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
| Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
| Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
| Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
| Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
| Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,394,883 (GRCm39) |
I302K |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
| Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,797,981 (GRCm39) |
T201A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
| Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
probably damaging |
Het |
|
| Other mutations in Kdm6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Kdm6a
|
APN |
X |
18,102,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00963:Kdm6a
|
APN |
X |
18,112,665 (GRCm39) |
splice site |
probably benign |
|
|
IGL02072:Kdm6a
|
APN |
X |
18,120,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03351:Kdm6a
|
APN |
X |
18,113,343 (GRCm39) |
nonsense |
probably null |
|
|
R0539:Kdm6a
|
UTSW |
X |
18,128,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1387:Kdm6a
|
UTSW |
X |
18,120,235 (GRCm39) |
splice site |
probably benign |
|
|
R1809:Kdm6a
|
UTSW |
X |
18,102,923 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2238:Kdm6a
|
UTSW |
X |
18,065,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2239:Kdm6a
|
UTSW |
X |
18,065,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4062:Kdm6a
|
UTSW |
X |
18,117,114 (GRCm39) |
missense |
probably benign |
|
|
R4063:Kdm6a
|
UTSW |
X |
18,117,114 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation