Mutagenetix > Incidental Mutation

Incidental Mutation 'R3036:Myadm'

263367

Institutional Source

Beutler Lab

Gene Symbol

Myadm

Ensembl Gene

ENSMUSG00000068566

Gene Name

myeloid-associated differentiation marker

Synonyms

D7Wsu62e

MMRRC Submission

040552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R3036 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3337563-3347871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3346059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 274 (T274A)

Ref Sequence

ENSEMBL: ENSMUSP00000145120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096744] [ENSMUST00000164553] [ENSMUST00000203328] [ENSMUST00000203566] [ENSMUST00000204541]

AlphaFold

O35682

Predicted Effect

probably benign
Transcript: ENSMUST00000096744
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: T274A

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	7.2e-16	PFAM
Pfam:MARVEL	162	311	1.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164553
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: T274A

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	5.6e-16	PFAM
Pfam:MARVEL	162	311	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203328
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: T274A

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	5.6e-16	PFAM
Pfam:MARVEL	162	311	1.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203566
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: T274A

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	151	5.6e-16	PFAM
Pfam:MARVEL	162	311	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203600

Predicted Effect

probably benign
Transcript: ENSMUST00000204541

SMART Domains

Protein: ENSMUSP00000145426
Gene: ENSMUSG00000068566

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:MARVEL	25	81	4.3e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg10	A	G	13: 91,189,017 (GRCm39)	S98P	probably damaging	Het
Caskin2	A	G	11: 115,697,182 (GRCm39)	Y189H	probably damaging	Het
Ces2b	A	G	8: 105,561,258 (GRCm39)	I143V	possibly damaging	Het
Gpr108	A	G	17: 57,552,323 (GRCm39)	V90A	probably benign	Het
Kcnk18	T	A	19: 59,223,494 (GRCm39)	V213D	probably benign	Het
Ly6f	T	C	15: 75,140,636 (GRCm39)	C20R	probably damaging	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mdn1	T	C	4: 32,750,013 (GRCm39)	C4399R	probably damaging	Het
Nol11	A	G	11: 107,064,070 (GRCm39)	S561P	possibly damaging	Het
Pbld2	T	C	10: 62,907,225 (GRCm39)	S155P	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Sumf1	G	A	6: 108,130,152 (GRCm39)	A214V	possibly damaging	Het
Teddm1a	A	G	1: 153,767,656 (GRCm39)	Y40C	probably benign	Het
Tgm2	C	T	2: 157,966,167 (GRCm39)	G496S	probably benign	Het
Trpm5	G	A	7: 142,639,200 (GRCm39)	T239I	probably benign	Het
Ttn	C	A	2: 76,730,960 (GRCm39)		probably benign	Het
Uty	G	A	Y: 1,099,671 (GRCm39)	R1112*	probably null	Het

Other mutations in Myadm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Myadm	APN	7	3,345,739 (GRCm39)	missense	possibly damaging	0.79
IGL01075:Myadm	APN	7	3,345,762 (GRCm39)	missense	probably damaging	1.00
IGL03342:Myadm	APN	7	3,345,403 (GRCm39)	missense	possibly damaging	0.93
R0005:Myadm	UTSW	7	3,346,080 (GRCm39)	nonsense	probably null
R0269:Myadm	UTSW	7	3,345,273 (GRCm39)	missense	unknown
R0413:Myadm	UTSW	7	3,345,276 (GRCm39)	frame shift	probably null
R0414:Myadm	UTSW	7	3,345,276 (GRCm39)	frame shift	probably null
R0666:Myadm	UTSW	7	3,345,865 (GRCm39)	missense	probably damaging	0.98
R4275:Myadm	UTSW	7	3,345,618 (GRCm39)	missense	probably benign	0.01
R4606:Myadm	UTSW	7	3,345,916 (GRCm39)	nonsense	probably null
R5764:Myadm	UTSW	7	3,345,768 (GRCm39)	missense	possibly damaging	0.93
R6558:Myadm	UTSW	7	3,345,577 (GRCm39)	missense	probably damaging	1.00
R6835:Myadm	UTSW	7	3,346,192 (GRCm39)	missense	possibly damaging	0.69
R8933:Myadm	UTSW	7	3,345,433 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCATACTAGCAGGGGTG -3'
(R):5'- TCAACTGGTTGAAGAGGCTG -3'

Sequencing Primer
(F):5'- GGTGACCATCCTGCTCAAC -3'
(R):5'- CTGGTTGAAGAGGCTGCAAGG -3'

Posted On

2015-02-05