Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01764:BC025920'

153643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC025920

Ensembl Gene

ENSMUSG00000074862

Gene Name

cDNA sequence BC025920

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01764

Quality Score

Status

Chromosome

Chromosomal Location

81442142-81445670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81444984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 36 (Y36N)

Ref Sequence

ENSEMBL: ENSMUSP00000113598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099442] [ENSMUST00000119492] [ENSMUST00000119753] [ENSMUST00000121138]

AlphaFold

Q3US60

Predicted Effect

probably damaging
Transcript: ENSMUST00000099442
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097041
Gene: ENSMUSG00000074862
AA Change: Y36N

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119492
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113938
Gene: ENSMUSG00000074862
AA Change: Y36N

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119753
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113471
Gene: ENSMUSG00000074862
AA Change: Y36N

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121138
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113598
Gene: ENSMUSG00000074862
AA Change: Y36N

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	1.41e2	SMART
ZnF_C2H2	36	58	5.38e-6	SMART
ZnF_C2H2	64	86	2.29e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180482

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
1700113H08Rik	A	T	10: 86,909,910 (GRCm39)	M1L	probably benign	Het
Cdk11b	G	A	4: 155,713,260 (GRCm39)	R112H	possibly damaging	Het
Ctu2	G	A	8: 123,206,161 (GRCm39)		probably benign	Het
Ddx56	A	C	11: 6,215,692 (GRCm39)	V219G	probably null	Het
Dnah14	T	C	1: 181,572,342 (GRCm39)	V2891A	probably benign	Het
Fbn2	G	T	18: 58,178,423 (GRCm39)	N1938K	probably damaging	Het
Fbxw20	A	G	9: 109,052,427 (GRCm39)	M302T	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gpat2	T	C	2: 127,269,456 (GRCm39)	I36T	probably benign	Het
Gsta5	A	T	9: 78,211,789 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,295,642 (GRCm39)	E2617G	possibly damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Krba1	C	T	6: 48,392,770 (GRCm39)	R895W	probably benign	Het
Large2	G	T	2: 92,197,531 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Mapk1	T	A	16: 16,801,597 (GRCm39)	M36K	possibly damaging	Het
Nf1	A	G	11: 79,275,013 (GRCm39)	T25A	probably benign	Het
Nrxn3	G	A	12: 90,171,524 (GRCm39)	V1316I	possibly damaging	Het
Pik3r4	G	A	9: 105,562,321 (GRCm39)		probably benign	Het
Plekhh1	G	T	12: 79,101,679 (GRCm39)	A250S	probably benign	Het
Polr3g	G	A	13: 81,830,238 (GRCm39)	T145M	possibly damaging	Het
Prss32	A	G	17: 24,075,085 (GRCm39)	D145G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,667 (GRCm39)	K162R	probably benign	Het
Spag7	A	G	11: 70,554,933 (GRCm39)		probably benign	Het
Spata2l	T	A	8: 123,960,914 (GRCm39)	Q125L	probably benign	Het
Tlr9	G	T	9: 106,103,004 (GRCm39)	C765F	probably damaging	Het
Trip11	A	T	12: 101,850,890 (GRCm39)	I773N	probably damaging	Het
Vcan	T	G	13: 89,873,507 (GRCm39)	T116P	probably damaging	Het
Vmn2r22	C	T	6: 123,627,379 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,052,556 (GRCm39)	I70T	probably benign	Het
Zfp938	T	A	10: 82,063,624 (GRCm39)		probably benign	Het

Other mutations in BC025920

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03094:BC025920	APN	10	81,444,906 (GRCm39)	missense	probably benign	0.00
R6412:BC025920	UTSW	10	81,445,195 (GRCm39)	missense	probably benign	0.01
R6683:BC025920	UTSW	10	81,445,135 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04