Incidental Mutation 'IGL01373:Cmah'
ID |
278481 |
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 # |
IGL01373
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
24511387-24661272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24614532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 159
(D159V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050859]
[ENSMUST00000110391]
[ENSMUST00000167746]
[ENSMUST00000224819]
[ENSMUST00000224953]
[ENSMUST00000224657]
|
AlphaFold |
Q61419 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050859
AA Change: D159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061045 Gene: ENSMUSG00000016756 AA Change: D159V
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 |
probably damaging
Transcript: ENSMUST00000110391
AA Change: D159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106021 Gene: ENSMUSG00000016756 AA Change: D159V
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 |
noncoding transcript
Transcript: ENSMUST00000131691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144621
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167746
AA Change: D159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129007 Gene: ENSMUSG00000016756 AA Change: D159V
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 |
probably damaging
Transcript: ENSMUST00000224819
AA Change: D60V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225046
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224953
AA Change: D159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224657
AA Change: D159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
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 |
|
IGL01074:Cmah
|
APN |
13 |
24,648,238 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01339: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 |
2015-04-16 |