Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01104:AU015836'

53332

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU015836

Ensembl Gene

ENSMUSG00000081044

Gene Name

expressed sequence AU015836

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

IGL01104

Quality Score

Status

Chromosome

Chromosomal Location

93012265-93019076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93015493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 15 (D15V)

Ref Sequence

ENSEMBL: ENSMUSP00000121062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120624] [ENSMUST00000121565] [ENSMUST00000149545] [ENSMUST00000163458]

AlphaFold

B2RUM3

Predicted Effect

probably damaging
Transcript: ENSMUST00000120624
AA Change: D15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000121565
AA Change: D15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124180

Predicted Effect

probably damaging
Transcript: ENSMUST00000149545
AA Change: D15V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000163458

SMART Domains

Protein: ENSMUSP00000130711
Gene: ENSMUSG00000081044

Domain	Start	End	E-Value	Type
Pfam:CHCH	64	100	8.6e-10	PFAM
low complexity region	108	120	N/A	INTRINSIC
low complexity region	128	222	N/A	INTRINSIC
low complexity region	225	252	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	A	1: 89,653,797 (GRCm39)		probably benign	Het
Capns2	G	T	8: 93,628,383 (GRCm39)	D91Y	probably damaging	Het
Chd6	C	T	2: 160,803,847 (GRCm39)	R2071Q	probably damaging	Het
Col4a4	G	T	1: 82,444,266 (GRCm39)	P1334T	unknown	Het
Dusp12	T	G	1: 170,702,042 (GRCm39)	H319P	probably damaging	Het
Emilin3	A	T	2: 160,751,703 (GRCm39)	V112E	probably damaging	Het
Eya3	T	A	4: 132,439,240 (GRCm39)	F455L	probably damaging	Het
F10	G	A	8: 13,105,686 (GRCm39)	G417D	probably damaging	Het
Fat3	A	C	9: 16,287,024 (GRCm39)	V833G	possibly damaging	Het
Fat3	A	T	9: 15,909,756 (GRCm39)	L2082H	probably damaging	Het
Golga5	T	A	12: 102,460,073 (GRCm39)	M667K	probably damaging	Het
Gpr50	T	A	X: 70,710,833 (GRCm39)	L305H	probably damaging	Het
Grhl1	A	G	12: 24,634,453 (GRCm39)	K217R	probably damaging	Het
Itgb2	A	G	10: 77,383,028 (GRCm39)		probably null	Het
Jag1	T	A	2: 136,926,298 (GRCm39)	I1035L	probably benign	Het
Kdm2a	A	G	19: 4,406,766 (GRCm39)		probably benign	Het
Lima1	A	C	15: 99,741,581 (GRCm39)	S32A	probably damaging	Het
Lmod1	C	T	1: 135,292,522 (GRCm39)	T459I	probably damaging	Het
Mtch1	T	C	17: 29,555,196 (GRCm39)	D284G	probably damaging	Het
Mtus2	C	T	5: 148,013,819 (GRCm39)		probably null	Het
Or7c19	A	G	8: 85,957,813 (GRCm39)	T230A	probably benign	Het
Ppl	T	C	16: 4,912,355 (GRCm39)	Q742R	probably benign	Het
Reln	T	C	5: 22,191,965 (GRCm39)	R1492G	probably damaging	Het
Rsad1	T	C	11: 94,434,466 (GRCm39)	T323A	possibly damaging	Het
Slc22a8	A	G	19: 8,585,329 (GRCm39)	T293A	possibly damaging	Het
Smc4	T	C	3: 68,934,917 (GRCm39)	I677T	possibly damaging	Het
Ufd1	T	C	16: 18,633,587 (GRCm39)	F4S	probably damaging	Het
Usp9x	T	C	X: 13,027,142 (GRCm39)	V16A	probably damaging	Het
Vmn2r31	A	T	7: 7,399,565 (GRCm39)	C131S	probably damaging	Het
Vmn2r65	A	G	7: 84,589,996 (GRCm39)	I640T	possibly damaging	Het
Vwf	T	C	6: 125,660,519 (GRCm39)	C2676R	probably damaging	Het

Other mutations in AU015836

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1889:AU015836	UTSW	X	93,012,985 (GRCm39)	utr 5 prime	probably benign
R1895:AU015836	UTSW	X	93,012,985 (GRCm39)	utr 5 prime	probably benign

Posted On

2013-06-21