Incidental Mutation 'R5206:Cmah'
ID |
402040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmah
|
Ensembl Gene |
ENSMUSG00000016756 |
Gene Name |
cytidine monophospho-N-acetylneuraminic acid hydroxylase |
Synonyms |
CMP-NeuAc hydroxylase |
MMRRC Submission |
042781-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R5206 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
24511387-24661272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24648267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 501
(F501V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050859]
[ENSMUST00000110391]
[ENSMUST00000167746]
[ENSMUST00000224657]
[ENSMUST00000224819]
[ENSMUST00000224953]
|
AlphaFold |
Q61419 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050859
AA Change: F501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061045 Gene: ENSMUSG00000016756 AA Change: F501V
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: F501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106021 Gene: ENSMUSG00000016756 AA Change: F501V
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 |
probably damaging
Transcript: ENSMUST00000167746
AA Change: F501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129007 Gene: ENSMUSG00000016756 AA Change: F501V
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: ENSMUST00000224657
AA Change: F501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224819
AA Change: F356V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224953
AA Change: F501V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
T |
C |
6: 100,781,576 (GRCm39) |
V417A |
probably damaging |
Het |
Hhipl1 |
G |
A |
12: 108,278,437 (GRCm39) |
R255H |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
Scamp1 |
C |
T |
13: 94,368,615 (GRCm39) |
R51H |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,804,024 (GRCm39) |
N351S |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,275 (GRCm39) |
I130V |
probably benign |
Het |
Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGGTATTTCAATTCACTGCTATTCT -3'
(R):5'- AACCACCCCAGTTGTAAGAACTC -3'
Sequencing Primer
(F):5'- GCCTTGCAATTTGCACA -3'
(R):5'- AGGAAGGGATCCCCACGGG -3'
|
Posted On |
2016-07-22 |