Mutagenetix > Incidental Mutations

Incidental Mutation 'R0718:Cmah'

63725

Institutional Source

Beutler Lab

Gene Symbol

Cmah

Ensembl Gene

ENSMUSG00000016756

Gene Name

cytidine monophospho-N-acetylneuraminic acid hydroxylase

Synonyms

CMP-NeuAc hydroxylase

MMRRC Submission

038900-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R0718 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

24327404-24477377 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 24417210 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050859] [ENSMUST00000110391] [ENSMUST00000167746] [ENSMUST00000224657] [ENSMUST00000224819] [ENSMUST00000224819] [ENSMUST00000224953]

Predicted Effect

probably benign
Transcript: ENSMUST00000050859

SMART Domains

Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756

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

SMART Domains

Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756

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 benign
Transcript: ENSMUST00000167746

SMART Domains

Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756

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

Predicted Effect

probably null
Transcript: ENSMUST00000224819

Predicted Effect

probably null
Transcript: ENSMUST00000224819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224879

Predicted Effect

probably benign
Transcript: ENSMUST00000224953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225046

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (96/96)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,679,608	Y811N	possibly damaging	Het
Adrm1	T	C	2: 180,175,147		probably benign	Het
Alms1	T	A	6: 85,621,821	S1210T	probably benign	Het
Ampd3	C	T	7: 110,777,808	P11L	probably damaging	Het
Arhgap5	A	G	12: 52,516,507	E87G	possibly damaging	Het
Armc5	C	T	7: 128,240,070		probably benign	Het
Asic2	C	G	11: 80,971,456		probably benign	Het
Asph	A	G	4: 9,514,683		probably benign	Het
Bicd2	T	A	13: 49,377,875		probably null	Het
Brip1	A	G	11: 86,143,305	L530P	possibly damaging	Het
Bsn	G	T	9: 108,111,360		probably benign	Het
Btnl4	T	A	17: 34,469,634	H390L	probably benign	Het
Ccdc70	A	C	8: 21,973,308	K38T	probably damaging	Het
Ccni	G	A	5: 93,202,316	P35S	probably benign	Het
Cdh17	A	G	4: 11,810,451	D714G	possibly damaging	Het
Cenpf	A	G	1: 189,653,984	L2033P	probably damaging	Het
Cfap69	A	T	5: 5,621,924	M328K	probably damaging	Het
Cog6	T	C	3: 53,010,629	T163A	probably benign	Het
Cyp2j8	G	A	4: 96,501,196	S130F	probably benign	Het
Dgki	A	G	6: 37,012,896	V636A	probably damaging	Het
Dmkn	T	A	7: 30,764,786		probably benign	Het
Dnah6	A	G	6: 73,035,293	I3679T	possibly damaging	Het
Dsp	A	T	13: 38,196,764	Y2495F	possibly damaging	Het
Exosc4	C	T	15: 76,329,489	A171V	probably benign	Het
Fbxw24	A	G	9: 109,623,509		probably benign	Het
Flvcr1	A	T	1: 191,025,582	L171Q	probably damaging	Het
Fsd1	G	T	17: 55,996,445		probably null	Het
Gm7732	A	G	17: 21,129,844		noncoding transcript	Het
H2-K2	A	C	17: 33,975,623		noncoding transcript	Het
Hgf	A	G	5: 16,593,859	N295S	probably damaging	Het
Ift88	T	A	14: 57,517,413	D811E	probably benign	Het
Igsf9b	T	A	9: 27,323,361		probably null	Het
Immt	T	A	6: 71,863,172	V311E	probably damaging	Het
Ipo11	T	A	13: 106,919,611	N51I	possibly damaging	Het
Isy1	T	C	6: 87,819,176	K260E	probably damaging	Het
Jchain	T	G	5: 88,526,202	I28L	probably benign	Het
Jmjd1c	T	A	10: 67,218,946		probably null	Het
Kif13b	T	C	14: 64,751,662		probably benign	Het
Klhdc7b	T	C	15: 89,388,169	Y427H	possibly damaging	Het
Klhl8	T	C	5: 103,876,293		probably benign	Het
Lrp2	C	T	2: 69,510,948	D963N	probably damaging	Het
Ltbp3	G	T	19: 5,746,748		probably benign	Het
Ltf	C	A	9: 111,040,379	Q41K	probably benign	Het
Med4	T	A	14: 73,516,657	I148N	probably damaging	Het
Mlh3	T	G	12: 85,247,697	S1242R	possibly damaging	Het
Mllt6	T	C	11: 97,676,359		probably benign	Het
Mpdz	A	G	4: 81,292,473	I1712T	possibly damaging	Het
Mrgprb4	T	A	7: 48,198,553	H209L	probably benign	Het
Nkapl	A	T	13: 21,468,440	M1K	probably null	Het
Nmur2	T	A	11: 56,029,498		probably benign	Het
Nsun2	T	A	13: 69,543,697		probably benign	Het
Olfr1082	G	A	2: 86,594,081	T249I	probably benign	Het
Olfr1130	A	G	2: 87,607,927	I180V	probably benign	Het
Ovgp1	T	C	3: 105,974,830		probably benign	Het
Pcdh8	A	G	14: 79,770,691	V144A	possibly damaging	Het
Pcnx3	G	A	19: 5,677,728		probably benign	Het
Pla2r1	C	A	2: 60,479,530	V570L	possibly damaging	Het
Plxnd1	C	A	6: 115,966,638	E1202D	possibly damaging	Het
Ppp1r37	T	C	7: 19,532,254	E529G	probably benign	Het
Prdm15	A	G	16: 97,812,633	F496L	possibly damaging	Het
Prlhr	A	T	19: 60,468,005	V41D	probably benign	Het
Prlhr	G	T	19: 60,468,059	S23*	probably null	Het
Prpf4	C	T	4: 62,414,540		probably benign	Het
Psg26	C	T	7: 18,475,235	R416H	probably benign	Het
Psg26	T	C	7: 18,478,287	H381R	probably benign	Het
Ralgds	T	G	2: 28,549,116	M717R	probably benign	Het
Rbms1	T	C	2: 60,842,412	N44D	probably damaging	Het
Rpa1	T	C	11: 75,318,401		probably benign	Het
Rprd2	T	C	3: 95,766,387	N568S	probably benign	Het
Rptor	A	G	11: 119,872,376	M929V	probably benign	Het
Rspo1	T	A	4: 125,007,149	C97S	possibly damaging	Het
Scin	C	T	12: 40,079,607	G396S	probably damaging	Het
Scn9a	T	C	2: 66,547,112	N409D	probably damaging	Het
Sf3b1	A	G	1: 55,019,385	I15T	probably damaging	Het
Sh3bp2	T	C	5: 34,555,495	V149A	probably damaging	Het
Slc39a12	T	A	2: 14,407,426		probably benign	Het
Sp9	G	T	2: 73,273,827	A242S	possibly damaging	Het
Srr	A	G	11: 74,911,065	V126A	possibly damaging	Het
Tatdn3	G	T	1: 191,052,849		probably benign	Het
Tex14	G	A	11: 87,499,613	V379I	probably benign	Het
Tmed6	T	C	8: 107,061,724	N197S	probably damaging	Het
Ttbk2	G	A	2: 120,748,575	L689F	probably benign	Het
Ttbk2	A	T	2: 120,745,160	I1043N	probably benign	Het
Ttn	A	G	2: 76,810,696	S5283P	probably damaging	Het
Ube3b	C	A	5: 114,402,555	S441*	probably null	Het
Ush2a	G	A	1: 188,797,830	C3272Y	probably damaging	Het
Vac14	T	A	8: 110,632,477	I95K	probably damaging	Het
Vangl2	G	A	1: 172,006,217	A433V	probably damaging	Het
Vwa5b1	A	T	4: 138,608,824	V153D	probably damaging	Het
Zfhx3	T	A	8: 108,955,650	D3240E	unknown	Het
Zfp945	A	G	17: 22,851,030	C632R	probably damaging	Het
Zfyve26	G	A	12: 79,265,802		probably benign	Het
Zyg11b	A	T	4: 108,242,076	I606N	possibly damaging	Het

Other mutations in Cmah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Cmah	APN	13	24460276	nonsense	probably null
IGL01074:Cmah	APN	13	24464255	missense	possibly damaging	0.59
IGL01339:Cmah	APN	13	24430549	missense	probably damaging	1.00
IGL01373:Cmah	APN	13	24430549	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
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
X0020:Cmah	UTSW	13	24428876	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGAGCGCACATTTGCATGG -3'
(R):5'- GGTGAGAAGCCTTCCTGTCAACTC -3'

Sequencing Primer
(F):5'- TTGTGGGAGATGCTTCAGAC -3'
(R):5'- TCTAACTGCAAACAGGGTCACTG -3'

Posted On

2013-07-30