Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00428:Dynlt1a'

5781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dynlt1a

Ensembl Gene

ENSMUSG00000092074

Gene Name

dynein light chain Tctex-type 1A

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

IGL00428

Quality Score

Status

Chromosome

Chromosomal Location

6356619-6367749 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6362062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 39 (V39I)

Ref Sequence

ENSEMBL: ENSMUSP00000156368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088940] [ENSMUST00000169415] [ENSMUST00000232383] [ENSMUST00000232499]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088940

SMART Domains

Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141

Domain	Start	End	E-Value	Type
transmembrane domain	17	36	N/A	INTRINSIC
Pfam:MIG-14_Wnt-bd	127	422	1e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169415
AA Change: V39I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127990
Gene: ENSMUSG00000092074
AA Change: V39I

Domain	Start	End	E-Value	Type
Pfam:Tctex-1	16	112	5.4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228334

Predicted Effect

probably benign
Transcript: ENSMUST00000232383

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232499
AA Change: V39I

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232591

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	G	A	10: 14,343,119 (GRCm39)	P276L	probably benign	Het
Asap1	G	A	15: 63,991,803 (GRCm39)		probably benign	Het
Axl	T	C	7: 25,460,297 (GRCm39)	T723A	probably damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Bltp1	A	G	3: 37,065,876 (GRCm39)	N3491S	probably benign	Het
Capn7	A	G	14: 31,085,535 (GRCm39)	K503E	probably benign	Het
Cbln4	A	G	2: 171,880,970 (GRCm39)	V108A	probably benign	Het
Ccdc71	C	T	9: 108,341,354 (GRCm39)	T389M	probably damaging	Het
Ccdc91	A	G	6: 147,508,452 (GRCm39)	T393A	unknown	Het
Cdh20	A	T	1: 104,881,612 (GRCm39)	H359L	probably benign	Het
Cfap119	A	T	7: 127,184,210 (GRCm39)	S229T	probably damaging	Het
Coro7	C	T	16: 4,452,500 (GRCm39)	V364M	possibly damaging	Het
Ctsq	A	T	13: 61,185,528 (GRCm39)	N204K	probably damaging	Het
Dnaja3	C	T	16: 4,512,309 (GRCm39)	R238C	probably damaging	Het
Gp1ba	A	G	11: 70,531,478 (GRCm39)		probably benign	Het
Gtf3c3	T	C	1: 54,455,114 (GRCm39)	Y583C	probably damaging	Het
Invs	T	C	4: 48,402,909 (GRCm39)	F514S	probably damaging	Het
Kif23	A	T	9: 61,833,750 (GRCm39)	C484S	probably benign	Het
Masp1	A	G	16: 23,295,062 (GRCm39)	Y400H	probably damaging	Het
Olfml3	G	A	3: 103,644,298 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,200,357 (GRCm39)	S299P	probably damaging	Het
Pcdhb16	A	T	18: 37,611,623 (GRCm39)	E194D	possibly damaging	Het
Pip5k1c	A	T	10: 81,141,545 (GRCm39)	T78S	probably benign	Het
Septin11	T	C	5: 93,304,877 (GRCm39)		probably null	Het
Septin8	A	G	11: 53,422,823 (GRCm39)	N11D	probably benign	Het
Slc10a6	G	A	5: 103,760,362 (GRCm39)	T211I	probably benign	Het
Smim8	T	C	4: 34,769,006 (GRCm39)	T93A	probably benign	Het
Tg	A	G	15: 66,645,273 (GRCm39)	I774M	probably benign	Het
Tulp4	A	G	17: 6,189,351 (GRCm39)	T58A	probably damaging	Het
Virma	T	C	4: 11,519,424 (GRCm39)		probably benign	Het
Wdr62	T	C	7: 29,970,177 (GRCm39)	D210G	probably damaging	Het
Zfp984	C	T	4: 147,839,343 (GRCm39)	G503S	probably benign	Het

Other mutations in Dynlt1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01809:Dynlt1a	APN	17	6,361,147 (GRCm39)	splice site	probably null
R0266:Dynlt1a	UTSW	17	6,367,670 (GRCm39)	missense	probably benign	0.00
R4258:Dynlt1a	UTSW	17	6,361,184 (GRCm39)	missense	probably benign	0.03
R6525:Dynlt1a	UTSW	17	6,362,014 (GRCm39)	missense	probably benign	0.10
R7732:Dynlt1a	UTSW	17	6,365,220 (GRCm39)	missense	probably benign	0.01
R8026:Dynlt1a	UTSW	17	6,362,089 (GRCm39)	missense	possibly damaging	0.56
R8225:Dynlt1a	UTSW	17	6,361,628 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-04-20