Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Myadm'

324754

Institutional Source

Beutler Lab

Gene Symbol

Myadm

Ensembl Gene

ENSMUSG00000068566

Gene Name

myeloid-associated differentiation marker

Synonyms

D7Wsu62e

MMRRC Submission

041646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3289080-3300442 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3297102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 127 (T127A)

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: T127A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000094505
Gene: ENSMUSG00000068566
AA Change: T127A

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: T127A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131318
Gene: ENSMUSG00000068566
AA Change: T127A

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: T127A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144984
Gene: ENSMUSG00000068566
AA Change: T127A

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: T127A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000145120
Gene: ENSMUSG00000068566
AA Change: T127A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,493,325	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,270,876	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,756,154		probably benign	Het
Dhcr7	C	T	7: 143,843,227	A152V	probably damaging	Het
Enpep	A	T	3: 129,332,278	N68K	probably benign	Het
Fam126b	T	C	1: 58,529,933	T440A	probably benign	Het
Fam131b	G	A	6: 42,321,307	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,762,772		probably benign	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Igf2	T	C	7: 142,655,786	M46V	probably benign	Het
Kntc1	T	A	5: 123,767,779	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,458,995	W647R	probably damaging	Het
Mettl21c	C	T	1: 44,010,556	V110I	probably damaging	Het
Mrgprh	T	C	17: 12,877,227	L118P	probably damaging	Het
Myh10	A	T	11: 68,751,940		probably null	Het
Nadk	T	A	4: 155,584,255	Y128N	probably benign	Het
Olfr1089	T	C	2: 86,733,592	T7A	probably damaging	Het
Olfr996	T	C	2: 85,579,863	V208A	probably benign	Het
Papolg	A	G	11: 23,868,378	I500T	probably benign	Het
Pkhd1	A	T	1: 20,058,384	C4032S	probably benign	Het
Rnase1	A	T	14: 51,145,870	L9Q	probably damaging	Het
Rspry1	G	T	8: 94,649,761	V304L	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Scpep1	T	C	11: 88,947,142		probably null	Het
Serpina3m	T	A	12: 104,389,116	I14N	probably damaging	Het
Smg6	A	C	11: 74,993,874		probably benign	Het
Suz12	T	C	11: 80,030,053	M593T	probably damaging	Het
Tmem139	A	G	6: 42,264,105	E208G	probably damaging	Het
Tnxb	A	G	17: 34,698,231	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,498,694	V911G	probably damaging	Het
Vipr1	T	C	9: 121,664,618	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,228,640	I92F	probably damaging	Het
Zfp518b	A	G	5: 38,671,728	V978A	probably damaging	Het
Zfp651	T	A	9: 121,766,539	V576D	probably damaging	Het

Other mutations in Myadm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Myadm	APN	7	3297223	missense	possibly damaging	0.79
IGL01075:Myadm	APN	7	3297246	missense	probably damaging	1.00
IGL03342:Myadm	APN	7	3296887	missense	possibly damaging	0.93
R0005:Myadm	UTSW	7	3297564	nonsense	probably null
R0269:Myadm	UTSW	7	3296757	missense	unknown
R0413:Myadm	UTSW	7	3296760	frame shift	probably null
R0414:Myadm	UTSW	7	3296760	frame shift	probably null
R0666:Myadm	UTSW	7	3297349	missense	probably damaging	0.98
R3036:Myadm	UTSW	7	3297543	missense	probably benign
R4606:Myadm	UTSW	7	3297400	nonsense	probably null
R5764:Myadm	UTSW	7	3297252	missense	possibly damaging	0.93
R6558:Myadm	UTSW	7	3297061	missense	probably damaging	1.00
R6835:Myadm	UTSW	7	3297676	missense	possibly damaging	0.69
R8933:Myadm	UTSW	7	3296917	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTAACTGGGCCATGTTCACCTG -3'
(R):5'- ATTATACAGGAGCGGCTCACTG -3'

Sequencing Primer
(F):5'- GGCCATGTTCACCTGGTGTTTC -3'
(R):5'- AGCGGCTCACTGATGAAGGC -3'

Posted On

2015-06-24