Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Cmah'

618540

Institutional Source

Beutler Lab

Gene Symbol

Cmah

Ensembl Gene

ENSMUSG00000016756

Gene Name

cytidine monophospho-N-acetylneuraminic acid hydroxylase

Synonyms

CMP-NeuAc hydroxylase

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

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

Stock #

R8041 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24511387-24661272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24652601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 577 (D577G)

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
AA Change: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000061045
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106021
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129007
Gene: ENSMUSG00000016756
AA Change: D577G

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: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000224819
AA Change: D432G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000224953
AA Change: D577G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cd48	T	C	1: 171,526,958 (GRCm39)	V128A	probably damaging	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Cntnap5a	T	A	1: 116,187,209 (GRCm39)	Y594N	probably damaging	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Comtd1	T	A	14: 21,897,985 (GRCm39)	E153V	probably benign	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Jph3	A	C	8: 122,516,201 (GRCm39)	I740L	probably benign	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het
Zbtb49	T	C	5: 38,358,198 (GRCm39)	D685G	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
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
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'- CAGAGCAAGACTGTCCTCTG -3'
(R):5'- TTCAAGCAGCCTGTGGACTC -3'

Sequencing Primer
(F):5'- AAGACTGTCCTCTGGGGAG -3'
(R):5'- GCAGGTGAGCTCACTAGTTTATACC -3'

Posted On

2020-01-23