Mutagenetix > Incidental Mutation

Incidental Mutation 'R6402:Dmac1'

516192

Institutional Source

Beutler Lab

Gene Symbol

Dmac1

Ensembl Gene

ENSMUSG00000028398

Gene Name

distal membrane arm assembly complex 1

Synonyms

Tmem261, 1700027K24Rik, 3110001D03Rik

MMRRC Submission

044419-MU

Accession Numbers

Essential gene?

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

Stock #

R6402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75195588-75196529 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 75196217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030103 (fasta)

Gene Model

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

AlphaFold

Q9CQ00

Predicted Effect

probably null
Transcript: ENSMUST00000030103

SMART Domains

Protein: ENSMUSP00000030103
Gene: ENSMUSG00000028398

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	T	A	9: 103,976,144 (GRCm39)	I268F	possibly damaging	Het
Adck2	T	C	6: 39,563,803 (GRCm39)	V514A	possibly damaging	Het
Catsper1	G	T	19: 5,389,524 (GRCm39)	G480W	probably damaging	Het
Cbarp	A	G	10: 79,970,956 (GRCm39)	I247T	probably benign	Het
Cdc14a	A	G	3: 116,142,108 (GRCm39)	Y172H	probably damaging	Het
Creld2	C	T	15: 88,707,344 (GRCm39)	R221C	probably damaging	Het
Epsti1	A	G	14: 78,177,318 (GRCm39)	E166G	probably damaging	Het
Hus1	A	G	11: 8,960,407 (GRCm39)	F64S	probably damaging	Het
Kansl1l	T	A	1: 66,801,352 (GRCm39)	H538L	probably damaging	Het
Map4k2	T	C	19: 6,394,111 (GRCm39)		probably null	Het
Mettl8	A	T	2: 70,796,805 (GRCm39)	Y98*	probably null	Het
Naip6	G	T	13: 100,437,226 (GRCm39)	H432Q	probably benign	Het
Sirt4	C	T	5: 115,618,370 (GRCm39)	V235M	probably damaging	Het
Skic3	A	G	13: 76,283,389 (GRCm39)	H827R	probably benign	Het
Slc23a3	T	C	1: 75,105,200 (GRCm39)	N456S	probably damaging	Het
Slc9a1	C	A	4: 133,097,962 (GRCm39)	H36Q	probably benign	Het
Spink14	A	G	18: 44,164,041 (GRCm39)	T70A	probably damaging	Het
Stambpl1	C	A	19: 34,211,539 (GRCm39)	P200Q	probably benign	Het
Trio	T	A	15: 27,902,997 (GRCm39)	I155L	probably benign	Het
Vmn1r51	T	C	6: 90,106,444 (GRCm39)	V120A	probably benign	Het
Wac	A	G	18: 7,901,585 (GRCm39)	S77G	possibly damaging	Het
Zeb2	G	A	2: 44,886,987 (GRCm39)	T675I	probably damaging	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
R2396:Dmac1	UTSW	4	75,196,458 (GRCm39)	missense	unknown
R6010:Dmac1	UTSW	4	75,196,473 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGGGGTCTACCAGAACAACTAC -3'
(R):5'- AGTACCGAGTTTTCCGCTCC -3'

Sequencing Primer
(F):5'- GGTCTACCAGAACAACTACACCCC -3'
(R):5'- TGTTTCCACAGCGGTTCC -3'

Posted On

2018-05-04