Mutagenetix > Incidental Mutation

Incidental Mutation 'R9041:Cmah'

687740

Institutional Source

Beutler Lab

Gene Symbol

Cmah

Ensembl Gene

ENSMUSG00000016756

Gene Name

cytidine monophospho-N-acetylneuraminic acid hydroxylase

Synonyms

CMP-NeuAc hydroxylase

MMRRC Submission

068868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R9041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24511387-24661272 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24641004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129007 (fasta)

Gene Model

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

AlphaFold

Q61419

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

probably null
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 benign
Transcript: ENSMUST00000224819

Predicted Effect

probably benign
Transcript: ENSMUST00000224953

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,054 (GRCm39)	I168T	probably benign	Het
Acvr2b	G	T	9: 119,257,052 (GRCm39)	E94*	probably null	Het
Adcy8	A	T	15: 64,609,287 (GRCm39)	I874N	probably benign	Het
Ahcyl	T	G	16: 45,974,468 (GRCm39)	D303A	possibly damaging	Het
Angptl1	G	T	1: 156,685,999 (GRCm39)	D362Y	probably damaging	Het
Arc	A	G	15: 74,543,896 (GRCm39)	V109A	probably damaging	Het
Asphd2	T	A	5: 112,539,768 (GRCm39)	T22S	probably benign	Het
Caprin2	A	T	6: 148,771,030 (GRCm39)	N321K	probably benign	Het
Carmil1	T	C	13: 24,282,793 (GRCm39)	D547G	possibly damaging	Het
Cd38	G	A	5: 44,058,899 (GRCm39)		probably null	Het
Cd3g	A	G	9: 44,884,818 (GRCm39)	V142A	possibly damaging	Het
Chrna6	A	T	8: 27,896,923 (GRCm39)	I318N	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cplx4	T	C	18: 66,103,097 (GRCm39)	M8V	probably damaging	Het
Dnajc19	T	C	3: 34,134,282 (GRCm39)	K27R	probably damaging	Het
E2f3	C	A	13: 30,093,939 (GRCm39)	D441Y	probably damaging	Het
Erap1	A	G	13: 74,822,818 (GRCm39)	K777R	probably benign	Het
Fastkd1	C	T	2: 69,532,715 (GRCm39)	V551I	probably benign	Het
Fgd5	A	G	6: 91,964,427 (GRCm39)	E220G	probably benign	Het
Gal3st2	T	C	1: 93,800,206 (GRCm39)	V19A	possibly damaging	Het
Ghr	T	C	15: 3,357,530 (GRCm39)	E246G	probably benign	Het
Gm10228	A	T	16: 88,838,113 (GRCm39)	Y64N	unknown	Het
Gsdmc4	T	C	15: 63,774,586 (GRCm39)	N65S	probably benign	Het
Heatr5b	C	A	17: 79,103,861 (GRCm39)	A1105S	probably benign	Het
Hipk2	A	T	6: 38,724,909 (GRCm39)	L376*	probably null	Het
Il6st	A	G	13: 112,611,631 (GRCm39)	T18A	probably benign	Het
Kif3b	T	C	2: 153,159,468 (GRCm39)	I423T	probably benign	Het
Klf17	T	C	4: 117,617,556 (GRCm39)	Y267C	probably damaging	Het
Kntc1	A	G	5: 123,927,093 (GRCm39)	T1183A	probably benign	Het
Lrrc71	A	G	3: 87,650,660 (GRCm39)	S201P	probably damaging	Het
Mrgprb5	A	T	7: 47,818,509 (GRCm39)	D75E	probably damaging	Het
Myef2l	T	C	3: 10,157,353 (GRCm39)	*499Q	probably null	Het
Myf6	A	G	10: 107,329,225 (GRCm39)	V240A	probably benign	Het
Ncoa6	T	C	2: 155,257,450 (GRCm39)	M698V	possibly damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nynrin	T	C	14: 56,108,753 (GRCm39)	S1287P	possibly damaging	Het
Or10ab5	A	G	7: 108,245,589 (GRCm39)	S65P	probably damaging	Het
Otud4	T	A	8: 80,400,441 (GRCm39)	S1052T	probably damaging	Het
Pcsk5	A	T	19: 17,538,132 (GRCm39)	C898*	probably null	Het
Pdcd1	T	C	1: 93,969,091 (GRCm39)	T76A	probably benign	Het
Plin2	T	A	4: 86,578,504 (GRCm39)	M198L	probably benign	Het
Prmt7	T	A	8: 106,963,460 (GRCm39)	V180D	possibly damaging	Het
R3hdm2	T	C	10: 127,320,405 (GRCm39)	Y549H	probably damaging	Het
Rad54l2	A	G	9: 106,600,018 (GRCm39)	S80P	possibly damaging	Het
Ryr3	T	A	2: 112,787,546 (GRCm39)	E235D	probably damaging	Het
Scart1	T	C	7: 139,808,503 (GRCm39)	C805R	probably damaging	Het
Serpina9	A	T	12: 103,967,737 (GRCm39)	S219R		Het
Sesn2	G	A	4: 132,225,272 (GRCm39)	T298I	probably benign	Het
Sf3b2	A	T	19: 5,324,872 (GRCm39)	V838E	possibly damaging	Het
Sfpq	C	A	4: 126,915,296 (GRCm39)	H29Q	unknown	Het
Smchd1	A	G	17: 71,701,710 (GRCm39)		probably null	Het
Sprr1b	A	G	3: 92,344,477 (GRCm39)	V133A	probably benign	Het
Srgap3	T	C	6: 112,754,054 (GRCm39)	Y243C	probably damaging	Het
Thop1	C	T	10: 80,917,228 (GRCm39)	A577V	possibly damaging	Het
Tmprss3	T	A	17: 31,410,014 (GRCm39)	D200V	probably benign	Het
Treh	A	T	9: 44,596,677 (GRCm39)	K512M	probably damaging	Het
Trip11	A	G	12: 101,845,127 (GRCm39)	V1537A	probably benign	Het
Trp63	A	G	16: 25,582,083 (GRCm39)	T44A	probably benign	Het
Vmn1r225	T	A	17: 20,722,577 (GRCm39)	M6K	possibly damaging	Het
Vmn2r90	A	C	17: 17,954,286 (GRCm39)	M817L	probably benign	Het
Zfp68	A	T	5: 138,604,699 (GRCm39)	Y541*	probably null	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
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
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'- TGGTTAGAGACGATAGCCCAG -3'
(R):5'- CTACGTTTAAAAGTGAGATGGAGGC -3'

Sequencing Primer
(F):5'- CACTGGAGAATGAACTGTCTCATCTG -3'
(R):5'- TTTAAAAGTGAGATGGAGGCCTTACC -3'

Posted On

2021-11-19