Incidental Mutation 'R5792:Cmah'
ID |
447042 |
Institutional Source |
Beutler Lab
|
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 # |
R5792 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
24511387-24661272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 24640898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 382
(N382K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050859]
[ENSMUST00000110391]
[ENSMUST00000167746]
[ENSMUST00000224657]
[ENSMUST00000224819]
[ENSMUST00000224953]
|
AlphaFold |
Q61419 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050859
AA Change: N382K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000061045 Gene: ENSMUSG00000016756 AA Change: N382K
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 benign
Transcript: ENSMUST00000110391
AA Change: N382K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000106021 Gene: ENSMUSG00000016756 AA Change: N382K
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 benign
Transcript: ENSMUST00000167746
AA Change: N382K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000129007 Gene: ENSMUSG00000016756 AA Change: N382K
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 benign
Transcript: ENSMUST00000224657
AA Change: N382K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224819
AA Change: N237K
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224953
AA Change: N382K
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (56/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,945 (GRCm39) |
I296F |
possibly damaging |
Het |
Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
Axdnd1 |
T |
G |
1: 156,169,459 (GRCm39) |
E802D |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,214,856 (GRCm39) |
H610L |
probably benign |
Het |
Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
Sytl2 |
A |
T |
7: 90,024,897 (GRCm39) |
D295V |
probably damaging |
Het |
Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,818,090 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
Zpbp2 |
A |
G |
11: 98,442,236 (GRCm39) |
|
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 |
R5206:Cmah
|
UTSW |
13 |
24,648,267 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTTCCTCAACTGGTTAGAGACG -3'
(R):5'- GCAAGTCAGGAGGAGAGTTCTTTATC -3'
Sequencing Primer
(F):5'- TCCTCAACTGGTTAGAGACGATAGC -3'
(R):5'- TTCAGCATCCTGCCAAG -3'
|
Posted On |
2016-12-15 |