Mutagenetix > Incidental Mutation

Incidental Mutation 'R2245:Myadml2'

240637

Institutional Source

Beutler Lab

Gene Symbol

Myadml2

Ensembl Gene

ENSMUSG00000025141

Gene Name

myeloid-associated differentiation marker-like 2

Synonyms

1110012N22Rik

MMRRC Submission

040245-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R2245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120536857-120538984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120538656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 60 (F60I)

Ref Sequence

ENSEMBL: ENSMUSP00000026134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000151876] [ENSMUST00000170556]

AlphaFold

Q08AU7

Predicted Effect

probably benign
Transcript: ENSMUST00000026133

SMART Domains

Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	5e-23	PFAM
Pfam:NAD_Gly3P_dh_N	2	144	9e-9	PFAM
Pfam:P5CR_dimer	162	268	2e-42	PFAM
low complexity region	292	303	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000026134
AA Change: F60I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026134
Gene: ENSMUSG00000025141
AA Change: F60I

Domain	Start	End	E-Value	Type
Pfam:MARVEL	17	149	3.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133908

Predicted Effect

probably benign
Transcript: ENSMUST00000139706

SMART Domains

Protein: ENSMUSP00000117737
Gene: ENSMUSG00000025140

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.9e-25	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141254

SMART Domains

Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	2.5e-24	PFAM
Pfam:NAD_Gly3P_dh_N	2	145	3.5e-9	PFAM
Pfam:P5CR_dimer	162	238	6.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145047

Predicted Effect

probably benign
Transcript: ENSMUST00000151876

SMART Domains

Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	1	68	5.7e-13	PFAM
Pfam:NAD_Gly3P_dh_N	13	119	3e-8	PFAM
Pfam:P5CR_dimer	132	164	2.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170556

SMART Domains

Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140

Domain	Start	End	E-Value	Type
Pfam:F420_oxidored	2	98	8.4e-24	PFAM
Pfam:P5CR_dimer	163	267	2.3e-40	PFAM
low complexity region	292	303	N/A	INTRINSIC

Meta Mutation Damage Score

0.4129

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	G	7: 82,099,308 (GRCm39)	Q154R	probably damaging	Het
Alpk2	A	G	18: 65,438,234 (GRCm39)	L1520P	probably benign	Het
Brd1	A	G	15: 88,574,063 (GRCm39)		probably null	Het
Ccdc158	A	G	5: 92,757,811 (GRCm39)		probably benign	Het
Cep350	C	A	1: 155,754,766 (GRCm39)	V1950F	probably benign	Het
Csnk1d	A	G	11: 120,863,229 (GRCm39)	I237T	probably damaging	Het
Ddah2	T	C	17: 35,280,561 (GRCm39)	L234P	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ephb1	A	C	9: 101,873,973 (GRCm39)		probably benign	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myo15a	T	C	11: 60,399,925 (GRCm39)	V2893A	probably damaging	Het
Ntn1	A	G	11: 68,276,120 (GRCm39)	V276A	probably benign	Het
Or11h6	T	A	14: 50,880,062 (GRCm39)	I102N	probably damaging	Het
Or4c111	A	T	2: 88,843,493 (GRCm39)	I305K	probably benign	Het
Or7a39	A	G	10: 78,715,765 (GRCm39)	Y253C	probably damaging	Het
Otof	T	C	5: 30,527,551 (GRCm39)	Y1962C	probably damaging	Het
Pcf11	T	C	7: 92,315,080 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,626,009 (GRCm39)	S1676P	unknown	Het
Prpf40b	A	G	15: 99,203,047 (GRCm39)		probably benign	Het
Ptprh	T	C	7: 4,576,345 (GRCm39)	D305G	probably benign	Het
Rdh16f2	A	G	10: 127,712,145 (GRCm39)	K201E	probably damaging	Het
Slc19a3	T	C	1: 82,991,691 (GRCm39)	Y439C	possibly damaging	Het
Son	G	T	16: 91,444,848 (GRCm39)		probably null	Het
Specc1	T	C	11: 62,022,713 (GRCm39)	L710P	probably damaging	Het
Tex15	A	G	8: 34,061,524 (GRCm39)	D592G	possibly damaging	Het
Tmem237	A	T	1: 59,147,863 (GRCm39)	D209E	probably damaging	Het
Vmn2r106	T	C	17: 20,488,423 (GRCm39)	T659A	probably benign	Het
Vmn2r71	T	A	7: 85,273,388 (GRCm39)	I734N	probably damaging	Het
Wdr7	A	T	18: 64,057,980 (GRCm39)	I1270F	possibly damaging	Het

Other mutations in Myadml2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1554:Myadml2	UTSW	11	120,538,553 (GRCm39)	nonsense	probably null
R6377:Myadml2	UTSW	11	120,538,538 (GRCm39)	missense	probably benign	0.00
R8677:Myadml2	UTSW	11	120,538,815 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTTCGTACCATGCATCCGGC -3'
(R):5'- GTCACTGTTAACACTGCCATTG -3'

Sequencing Primer
(F):5'- ATCCGGCAGGCTCAGGTG -3'
(R):5'- TGCCATTGCAGACTGCCAG -3'

Posted On

2014-10-15