Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00837:Adig'

8619

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adig

Ensembl Gene

ENSMUSG00000044405

Gene Name

adipogenin

Synonyms

SMAF1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00837

Quality Score

Status

Chromosome

Chromosomal Location

158344532-158350118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158344709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 16 (F16Y)

Ref Sequence

ENSEMBL: ENSMUSP00000051732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046274] [ENSMUST00000059889] [ENSMUST00000109484] [ENSMUST00000109486] [ENSMUST00000141497]

AlphaFold

Q8R400

Predicted Effect

probably benign
Transcript: ENSMUST00000046274

SMART Domains

Protein: ENSMUSP00000048430
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	775	788	N/A	INTRINSIC
low complexity region	910	920	N/A	INTRINSIC
low complexity region	1086	1097	N/A	INTRINSIC
low complexity region	1309	1321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059889
AA Change: F16Y

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051732
Gene: ENSMUSG00000044405
AA Change: F16Y

Domain	Start	End	E-Value	Type
Pfam:Adipogenin	1	79	5.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109484

Predicted Effect

probably benign
Transcript: ENSMUST00000109486

SMART Domains

Protein: ENSMUSP00000105112
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	166	178	N/A	INTRINSIC
low complexity region	610	625	N/A	INTRINSIC
low complexity region	779	792	N/A	INTRINSIC
low complexity region	914	924	N/A	INTRINSIC
low complexity region	1090	1101	N/A	INTRINSIC
low complexity region	1313	1325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141497

SMART Domains

Protein: ENSMUSP00000116481
Gene: ENSMUSG00000027652

Domain	Start	End	E-Value	Type
low complexity region	288	303	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	592	602	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
low complexity region	991	1003	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148187

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	T	C	6: 55,438,605 (GRCm39)		probably benign	Het
Alox12e	T	C	11: 70,211,880 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,646,724 (GRCm39)		probably benign	Het
Aoc1	T	A	6: 48,885,598 (GRCm39)	I701N	possibly damaging	Het
Armc1	A	C	3: 19,198,584 (GRCm39)	N125K	probably benign	Het
Bcl2a1c	A	T	9: 114,159,560 (GRCm39)	T113S	probably benign	Het
Cdh10	A	T	15: 19,013,490 (GRCm39)	I697L	probably benign	Het
Cep350	A	T	1: 155,829,137 (GRCm39)	S256T	probably damaging	Het
Chd6	T	C	2: 160,883,999 (GRCm39)	N82S	probably benign	Het
Gart	T	C	16: 91,435,608 (GRCm39)		probably benign	Het
Gtf3c6	A	G	10: 40,130,470 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,851,100 (GRCm39)		probably benign	Het
Mtmr6	T	A	14: 60,517,666 (GRCm39)	Y92*	probably null	Het
Muc13	A	T	16: 33,628,329 (GRCm39)	K360*	probably null	Het
Nfyc	A	G	4: 120,638,744 (GRCm39)		probably benign	Het
Pole	T	A	5: 110,449,875 (GRCm39)	V774E	possibly damaging	Het
Rnf217	A	G	10: 31,379,770 (GRCm39)	L484P	probably damaging	Het
Slc18a2	A	T	19: 59,272,816 (GRCm39)	I373F	probably benign	Het
Slc5a9	A	G	4: 111,750,887 (GRCm39)		probably benign	Het
Tbc1d30	T	C	10: 121,132,750 (GRCm39)	I205V	probably damaging	Het
Tfap2d	A	T	1: 19,189,430 (GRCm39)	D270V	probably damaging	Het
Tmem63c	G	A	12: 87,123,971 (GRCm39)	S483N	probably benign	Het
Tor1aip1	T	A	1: 155,882,662 (GRCm39)		probably benign	Het
Tsga10	A	C	1: 37,840,992 (GRCm39)		probably benign	Het
Ttc21b	A	T	2: 66,065,915 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,825 (GRCm39)	L143*	probably null	Het

Other mutations in Adig

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5550:Adig	UTSW	2	158,349,880 (GRCm39)	unclassified	probably benign
R7238:Adig	UTSW	2	158,347,773 (GRCm39)	missense	unknown
R7396:Adig	UTSW	2	158,347,836 (GRCm39)	missense	unknown
R9083:Adig	UTSW	2	158,347,709 (GRCm39)	splice site	probably benign
R9273:Adig	UTSW	2	158,349,890 (GRCm39)	makesense	probably null
R9273:Adig	UTSW	2	158,347,727 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06