Incidental Mutation 'IGL01074:Cmah'
| ID |
52536 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cmah
|
| Ensembl Gene |
ENSMUSG00000016756 |
| Gene Name |
cytidine monophospho-N-acetylneuraminic acid hydroxylase |
| Synonyms |
CMP-NeuAc hydroxylase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL01074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24511387-24661272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24648238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 491
(D491G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050859]
[ENSMUST00000110391]
[ENSMUST00000167746]
[ENSMUST00000224657]
[ENSMUST00000224819]
[ENSMUST00000224953]
|
| AlphaFold |
Q61419 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050859
AA Change: D491G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: D491G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rieske
|
14 |
107 |
6.2e-9 |
PFAM |
|
Pfam:Lactamase_B_3
|
138 |
283 |
9.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110391
AA Change: D491G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: D491G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rieske
|
15 |
107 |
1.5e-9 |
PFAM |
|
Pfam:Lactamase_B_3
|
138 |
266 |
2.5e-12 |
PFAM |
|
Pfam:Lactamase_B_2
|
154 |
351 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167746
AA Change: D491G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: D491G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rieske
|
14 |
107 |
6.2e-9 |
PFAM |
|
Pfam:Lactamase_B_3
|
138 |
283 |
9.8e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224657
AA Change: D491G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224819
AA Change: D346G
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224953
AA Change: D491G
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with homozygous mutation of Cmah show subtle incidence of lethality, with slightly abnormal B and T cell physiolgy, including cytokine production in response to stimulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
| Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
| Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
| Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,710,118 (GRCm39) |
V29L |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,155,282 (GRCm39) |
R228G |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
| Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
| Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
| Or4c116 |
T |
C |
2: 88,942,023 (GRCm39) |
T278A |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
| Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,874,674 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,491 (GRCm39) |
S343P |
possibly damaging |
Het |
|
| Other mutations in Cmah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00648:Cmah
|
APN |
13 |
24,644,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01339:Cmah
|
APN |
13 |
24,614,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Cmah
|
APN |
13 |
24,614,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
schnozz
|
UTSW |
13 |
24,641,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
snout
|
UTSW |
13 |
24,606,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Cmah
|
UTSW |
13 |
24,620,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0462:Cmah
|
UTSW |
13 |
24,620,724 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0718:Cmah
|
UTSW |
13 |
24,601,193 (GRCm39) |
splice site |
probably null |
|
|
R1028:Cmah
|
UTSW |
13 |
24,619,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Cmah
|
UTSW |
13 |
24,623,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Cmah
|
UTSW |
13 |
24,623,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1773:Cmah
|
UTSW |
13 |
24,601,282 (GRCm39) |
missense |
probably benign |
|
|
R2116:Cmah
|
UTSW |
13 |
24,612,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4208:Cmah
|
UTSW |
13 |
24,601,410 (GRCm39) |
splice site |
probably null |
|
|
R4868:Cmah
|
UTSW |
13 |
24,648,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5206:Cmah
|
UTSW |
13 |
24,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Cmah
|
UTSW |
13 |
24,640,898 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6246:Cmah
|
UTSW |
13 |
24,650,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Cmah
|
UTSW |
13 |
24,648,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Cmah
|
UTSW |
13 |
24,620,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Cmah
|
UTSW |
13 |
24,652,539 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7552:Cmah
|
UTSW |
13 |
24,640,938 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7611:Cmah
|
UTSW |
13 |
24,619,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8041:Cmah
|
UTSW |
13 |
24,652,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8474:Cmah
|
UTSW |
13 |
24,601,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Cmah
|
UTSW |
13 |
24,606,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Cmah
|
UTSW |
13 |
24,641,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9746:Cmah
|
UTSW |
13 |
24,619,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0020:Cmah
|
UTSW |
13 |
24,612,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cmah
|
UTSW |
13 |
24,619,667 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation