Mutagenetix > Incidental Mutation

Incidental Mutation 'R0462:Cmah'

41417

Institutional Source

Beutler Lab

Gene Symbol

Cmah

Ensembl Gene

ENSMUSG00000016756

Gene Name

cytidine monophospho-N-acetylneuraminic acid hydroxylase

Synonyms

CMP-NeuAc hydroxylase

MMRRC Submission

038662-MU

Accession Numbers

Essential gene?

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

Stock #

R0462 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

24511387-24661272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24620724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 319 (S319R)

Ref Sequence

ENSEMBL: ENSMUSP00000153652 (fasta)

Gene Model

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

AlphaFold

Q61419

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050859
AA Change: S319R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: S319R

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: S319R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: S319R

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

possibly damaging
Transcript: ENSMUST00000167746
AA Change: S319R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: S319R

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: S319R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224953
AA Change: S319R

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000224819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225046

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	T	11: 101,304,917 (GRCm39)	D190E	probably damaging	Het
Acnat2	A	G	4: 49,383,084 (GRCm39)		probably null	Het
Acot10	T	G	15: 20,666,712 (GRCm39)	T10P	possibly damaging	Het
Aldh7a1	T	C	18: 56,667,286 (GRCm39)		probably null	Het
Alkbh7	G	A	17: 57,305,443 (GRCm39)	V87I	probably benign	Het
Ano2	A	T	6: 125,689,238 (GRCm39)	H121L	probably benign	Het
Apob	A	T	12: 8,050,896 (GRCm39)	Y1040F	probably damaging	Het
Arhgap25	A	T	6: 87,436,942 (GRCm39)	V636E	possibly damaging	Het
Atad2b	A	T	12: 4,991,973 (GRCm39)	T191S	possibly damaging	Het
Atpsckmt	T	C	15: 31,617,018 (GRCm39)	M161T	probably damaging	Het
Btbd9	A	T	17: 30,749,191 (GRCm39)	V41D	possibly damaging	Het
Bzw2	G	A	12: 36,174,023 (GRCm39)	R25C	probably damaging	Het
Carmil1	T	C	13: 24,206,494 (GRCm39)	S1326G	probably benign	Het
Cdh18	A	G	15: 23,366,971 (GRCm39)	R226G	probably damaging	Het
Cdh3	A	G	8: 107,282,012 (GRCm39)	N800S	possibly damaging	Het
Cep152	A	T	2: 125,425,854 (GRCm39)	V837E	possibly damaging	Het
Cep85	G	A	4: 133,858,732 (GRCm39)	T713M	possibly damaging	Het
Chd7	T	C	4: 8,850,821 (GRCm39)	Y1736H	probably damaging	Het
Chst3	T	C	10: 60,022,535 (GRCm39)	E104G	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cnbd1	A	G	4: 18,895,044 (GRCm39)	F233L	probably benign	Het
Cpne5	T	C	17: 29,395,163 (GRCm39)	E251G	probably benign	Het
Csf2rb2	G	A	15: 78,169,373 (GRCm39)	P485L	probably damaging	Het
Dimt1	T	C	13: 107,085,264 (GRCm39)	M70T	possibly damaging	Het
Dlk2	A	G	17: 46,614,024 (GRCm39)	*383W	probably null	Het
Dnah2	G	A	11: 69,350,027 (GRCm39)	R2369C	probably damaging	Het
Dock2	A	G	11: 34,218,052 (GRCm39)	F1173L	possibly damaging	Het
Dok7	A	G	5: 35,223,806 (GRCm39)	H115R	possibly damaging	Het
Dpy19l1	A	G	9: 24,325,645 (GRCm39)	I720T	probably benign	Het
Eps8	A	T	6: 137,491,309 (GRCm39)	D356E	probably benign	Het
Exoc1	A	G	5: 76,691,464 (GRCm39)	N263D	probably benign	Het
Fbxl3	T	C	14: 103,320,322 (GRCm39)	D375G	probably damaging	Het
Fcgbpl1	A	T	7: 27,836,765 (GRCm39)	D228V	probably damaging	Het
Flg2	A	T	3: 93,108,744 (GRCm39)	E257D	probably benign	Het
Fstl4	A	G	11: 53,077,229 (GRCm39)	D662G	probably benign	Het
Gbp10	G	T	5: 105,366,390 (GRCm39)	Q505K	possibly damaging	Het
Gemin2	C	T	12: 59,060,305 (GRCm39)	P15S	probably damaging	Het
Grhl2	A	G	15: 37,344,919 (GRCm39)	M514V	probably benign	Het
Hgs	A	G	11: 120,369,970 (GRCm39)	N413D	possibly damaging	Het
Il12rb2	T	C	6: 67,280,594 (GRCm39)	S538G	possibly damaging	Het
Kdm5a	A	G	6: 120,379,561 (GRCm39)	D623G	probably damaging	Het
Kifbp	A	T	10: 62,395,235 (GRCm39)	I469N	probably damaging	Het
Matk	G	T	10: 81,095,527 (GRCm39)	V116F	probably damaging	Het
Mcm3	T	C	1: 20,875,556 (GRCm39)	T694A	probably benign	Het
Mctp1	C	A	13: 76,949,520 (GRCm39)	H260Q	probably damaging	Het
Mios	T	A	6: 8,215,743 (GRCm39)	I313K	probably benign	Het
Muc4	T	A	16: 32,582,910 (GRCm39)	Y2562N	possibly damaging	Het
Naip5	T	A	13: 100,358,240 (GRCm39)	I999F	probably damaging	Het
Or11h4	T	A	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or14j7	A	T	17: 38,234,667 (GRCm39)	D70V	probably damaging	Het
Or1x6	A	G	11: 50,939,336 (GRCm39)	Y134C	probably damaging	Het
Or52a5	A	T	7: 103,426,770 (GRCm39)	S261T	probably benign	Het
Or7g12	A	T	9: 18,900,198 (GRCm39)	I305F	probably benign	Het
Or8g52	T	A	9: 39,630,706 (GRCm39)	F61Y	probably benign	Het
Pafah1b1	A	G	11: 74,568,541 (GRCm39)	V396A	probably benign	Het
Pard6b	T	A	2: 167,929,467 (GRCm39)	I91N	possibly damaging	Het
Pdzd2	T	C	15: 12,592,246 (GRCm39)	S133G	probably damaging	Het
Plcg2	T	G	8: 118,312,044 (GRCm39)	S445R	probably benign	Het
Plekhd1	G	T	12: 80,768,352 (GRCm39)	V396L	probably damaging	Het
Ppp4r2	A	G	6: 100,843,518 (GRCm39)	D294G	possibly damaging	Het
Ppwd1	T	C	13: 104,359,468 (GRCm39)		probably null	Het
Prr22	A	G	17: 57,077,551 (GRCm39)		probably benign	Het
Psme4	A	G	11: 30,798,117 (GRCm39)	D1370G	probably damaging	Het
Rac3	T	A	11: 120,613,684 (GRCm39)	V86D	probably damaging	Het
Rnf207	T	C	4: 152,397,829 (GRCm39)	S335G	possibly damaging	Het
Rxfp3	A	G	15: 11,037,063 (GRCm39)	L103P	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Smpdl3a	G	T	10: 57,670,827 (GRCm39)	C17F	probably benign	Het
Spaca7b	T	A	8: 11,711,749 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,973,429 (GRCm39)	F921I	probably benign	Het
Spen	A	T	4: 141,200,962 (GRCm39)	I2555N	probably damaging	Het
Srpk2	G	T	5: 23,723,424 (GRCm39)	T564K	probably damaging	Het
Stard4	C	T	18: 33,338,202 (GRCm39)	R116H	probably damaging	Het
Supt7l	A	T	5: 31,677,640 (GRCm39)	S175R	probably damaging	Het
Sycp1	A	T	3: 102,726,422 (GRCm39)	Y932N	possibly damaging	Het
Tas2r122	T	C	6: 132,688,141 (GRCm39)	M251V	probably benign	Het
Tbx15	A	T	3: 99,223,634 (GRCm39)	E274V	probably damaging	Het
Tex52	A	G	6: 128,361,917 (GRCm39)	E298G	probably benign	Het
Tmem101	T	C	11: 102,046,693 (GRCm39)	M59V	probably benign	Het
Tmem132b	T	C	5: 125,862,990 (GRCm39)	V665A	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Ush2a	A	G	1: 188,643,136 (GRCm39)	H4166R	probably benign	Het
Vmn2r101	G	T	17: 19,810,431 (GRCm39)	V406L	probably benign	Het
Vrk3	A	G	7: 44,413,624 (GRCm39)	D166G	possibly damaging	Het
Washc4	T	A	10: 83,392,777 (GRCm39)	M259K	probably benign	Het
Wdr70	T	C	15: 8,108,645 (GRCm39)	D167G	probably benign	Het
Zfp1005	A	G	2: 150,111,122 (GRCm39)	E604G	possibly damaging	Het
Zfp28	A	T	7: 6,395,239 (GRCm39)	Q248L	possibly damaging	Het
Zfp39	A	G	11: 58,781,232 (GRCm39)	I510T	probably benign	Het
Zfp710	T	A	7: 79,740,089 (GRCm39)	*646R	probably null	Het
Zfp90	C	T	8: 107,151,892 (GRCm39)	S535L	possibly damaging	Het
Zfp949	C	T	9: 88,450,787 (GRCm39)	T119I	possibly damaging	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
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
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'- CACTGGACAAACTTGTTGGCTTGG -3'
(R):5'- GGTGGGAATCTGCCCTGTAGAATG -3'

Sequencing Primer
(F):5'- GCTTGGTCATTCAAACCAGAG -3'
(R):5'- TGCCCTGTAGAATGCCCTG -3'

Posted On

2013-05-23