Mutagenetix > Incidental Mutation

Incidental Mutation 'R2396:Dmac1'

248515

Institutional Source

Beutler Lab

Gene Symbol

Dmac1

Ensembl Gene

ENSMUSG00000028398

Gene Name

distal membrane arm assembly complex 1

Synonyms

Tmem261, 1700027K24Rik, 3110001D03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75195588-75196529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75196458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 11 (F11L)

Ref Sequence

ENSEMBL: ENSMUSP00000030103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030103]

AlphaFold

Q9CQ00

Predicted Effect

unknown
Transcript: ENSMUST00000030103
AA Change: F11L

SMART Domains

Protein: ENSMUSP00000030103
Gene: ENSMUSG00000028398
AA Change: F11L

Domain	Start	End	E-Value	Type
low complexity region	12	38	N/A	INTRINSIC
Pfam:DUF4536	45	91	2.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083950

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,261,356 (GRCm39)	W1189*	probably null	Het
Col4a4	C	G	1: 82,484,793 (GRCm39)	M491I	unknown	Het
Col5a1	C	A	2: 27,876,741 (GRCm39)	D813E	unknown	Het
Cyp4b1	T	C	4: 115,498,843 (GRCm39)	Y113C	probably benign	Het
Dnah9	G	T	11: 65,975,984 (GRCm39)	T1355K	probably benign	Het
Efemp1	G	A	11: 28,817,941 (GRCm39)	R140Q	possibly damaging	Het
Elapor2	T	C	5: 9,485,395 (GRCm39)	L519P	possibly damaging	Het
Fndc3a	T	C	14: 72,921,123 (GRCm39)	D17G	possibly damaging	Het
Grm8	C	T	6: 27,761,241 (GRCm39)	A328T	probably damaging	Het
Lepr	C	A	4: 101,590,725 (GRCm39)	A101E	probably benign	Het
Ncapg	A	G	5: 45,835,715 (GRCm39)	N382S	probably benign	Het
Or10am5	C	A	7: 6,517,784 (GRCm39)	V215F	probably damaging	Het
Or5m13b	T	C	2: 85,754,269 (GRCm39)	I219T	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pigb	T	A	9: 72,922,553 (GRCm39)	R11*	probably null	Het
Prl8a1	C	A	13: 27,758,007 (GRCm39)	R234L	probably benign	Het
Spred3	T	C	7: 28,866,059 (GRCm39)	H80R	probably damaging	Het
Sptlc3	T	C	2: 139,408,506 (GRCm39)	I207T	probably benign	Het
Tll1	C	A	8: 64,523,324 (GRCm39)	G463*	probably null	Het
Tm4sf4	T	G	3: 57,345,181 (GRCm39)	C196G	unknown	Het
Tmem87a	A	T	2: 120,234,540 (GRCm39)	M1K	probably null	Het
Tmem92	A	G	11: 94,673,233 (GRCm39)	L10P	probably damaging	Het
Trdn	A	T	10: 33,071,978 (GRCm39)	E215V	probably damaging	Het
Trpm2	A	T	10: 77,766,471 (GRCm39)	D849E	probably benign	Het

Other mutations in Dmac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0054:Dmac1	UTSW	4	75,196,337 (GRCm39)	missense	possibly damaging	0.91
R0054:Dmac1	UTSW	4	75,196,337 (GRCm39)	missense	possibly damaging	0.91
R0501:Dmac1	UTSW	4	75,196,413 (GRCm39)	missense	unknown
R6010:Dmac1	UTSW	4	75,196,473 (GRCm39)	missense	unknown
R6402:Dmac1	UTSW	4	75,196,217 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCCACCAAATAGACGTAGG -3'
(R):5'- TGAGGCAGCCTTGACTTTTG -3'

Sequencing Primer
(F):5'- CCAAATAGACGTAGGTGCCCG -3'
(R):5'- TCTGGATTACACAAGCCTCTGAGG -3'

Posted On

2014-11-11