Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01074:Cmah'

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: 0.109) question?

Stock #

IGL01074

Quality Score

Status

Chromosome

Chromosomal Location

24327404-24477377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24464255 bp (GRCm38)

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: 80,013,892	D1934G	possibly damaging	Het
Adcy2	A	T	13: 68,796,654	I203N	possibly damaging	Het
Asxl3	T	C	18: 22,522,845	V1304A	probably damaging	Het
Cobll1	A	G	2: 65,107,848	S364P	probably damaging	Het
Cspg4	T	C	9: 56,898,865	L2320P	probably damaging	Het
Defa5	T	A	8: 21,297,576	F46L	possibly damaging	Het
Erich6b	T	A	14: 75,658,768	N31K	probably benign	Het
Fcrl6	C	T	1: 172,599,113	V89M	possibly damaging	Het
Gm5458	G	T	14: 19,599,692	L155I	probably damaging	Het
Hlx	T	C	1: 184,727,813	D376G	probably damaging	Het
Hmcn1	A	G	1: 150,627,033	S3948P	possibly damaging	Het
Igf2bp2	G	A	16: 22,063,704	R416W	probably damaging	Het
Lama4	T	C	10: 39,098,488		probably null	Het
Lingo4	T	C	3: 94,403,288	V511A	probably benign	Het
Mllt3	C	A	4: 87,791,881	V29L	probably benign	Het
Mmp16	T	C	4: 18,110,584		probably benign	Het
Moxd1	A	G	10: 24,279,384	R228G	probably benign	Het
Myrfl	T	C	10: 116,779,585	N802S	possibly damaging	Het
Nmu	C	A	5: 76,343,927	V121F	probably damaging	Het
Npepps	T	C	11: 97,217,811	T760A	probably damaging	Het
Ogfod1	G	T	8: 94,063,006	W445L	probably damaging	Het
Olfr1221	T	C	2: 89,111,679	T278A	probably benign	Het
Oplah	G	A	15: 76,305,748	P222S	probably damaging	Het
Slc4a4	T	A	5: 89,179,774	L699H	probably damaging	Het
Sod3	C	T	5: 52,368,198	Q80*	probably null	Het
Syne2	C	T	12: 76,031,587	Q4732*	probably null	Het
Syne2	T	C	12: 75,987,011	I3678T	probably benign	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tmem220	T	C	11: 67,032,173		probably benign	Het
Uhrf1bp1	A	G	17: 27,879,291	I136V	possibly damaging	Het
Ush1c	A	G	7: 46,225,250		probably benign	Het
Wbp2nl	T	C	15: 82,314,290	S343P	possibly damaging	Het

Other mutations in Cmah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Cmah	APN	13	24460276	nonsense	probably null
IGL01339:Cmah	APN	13	24430549	missense	probably damaging	1.00
IGL01373:Cmah	APN	13	24430549	missense	probably damaging	1.00
schnozz	UTSW	13	24457021	critical splice donor site	probably null
snout	UTSW	13	24422653	missense	probably damaging	1.00
R0095:Cmah	UTSW	13	24436685	missense	probably benign	0.01
R0462:Cmah	UTSW	13	24436741	missense	possibly damaging	0.58
R0718:Cmah	UTSW	13	24417210	splice site	probably null
R1028:Cmah	UTSW	13	24435662	missense	probably damaging	1.00
R1474:Cmah	UTSW	13	24439197	missense	probably damaging	1.00
R1535:Cmah	UTSW	13	24439220	missense	probably damaging	0.99
R1773:Cmah	UTSW	13	24417299	missense	probably benign
R2116:Cmah	UTSW	13	24428897	missense	probably benign	0.01
R4208:Cmah	UTSW	13	24417427	splice site	probably null
R4868:Cmah	UTSW	13	24464264	missense	probably damaging	1.00
R5206:Cmah	UTSW	13	24464284	missense	probably damaging	1.00
R5792:Cmah	UTSW	13	24456915	missense	probably benign	0.14
R6246:Cmah	UTSW	13	24466790	missense	probably damaging	1.00
R6750:Cmah	UTSW	13	24464252	missense	probably damaging	1.00
R7157:Cmah	UTSW	13	24436629	missense	probably damaging	1.00
R7359:Cmah	UTSW	13	24468556	missense	probably benign	0.05
R7552:Cmah	UTSW	13	24456955	missense	possibly damaging	0.63
R7611:Cmah	UTSW	13	24435647	missense	probably benign	0.03
R8041:Cmah	UTSW	13	24468618	missense	probably benign	0.02
R8474:Cmah	UTSW	13	24417367	missense	probably damaging	1.00
R8969:Cmah	UTSW	13	24422653	missense	probably damaging	1.00
R9041:Cmah	UTSW	13	24457021	critical splice donor site	probably null
R9746:Cmah	UTSW	13	24435690	critical splice donor site	probably null
X0020:Cmah	UTSW	13	24428876	missense	probably damaging	1.00
Z1177:Cmah	UTSW	13	24435684	nonsense	probably null

Posted On

2013-06-21