Mutagenetix > Incidental Mutation

Incidental Mutation 'R3934:Aig1'

306944

Institutional Source

Beutler Lab

Gene Symbol

Aig1

Ensembl Gene

ENSMUSG00000019806

Gene Name

androgen-induced 1

Synonyms

1500031O19Rik, CGI-103

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13522798-13744724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13677656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000125366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019942] [ENSMUST00000105534] [ENSMUST00000162610]

AlphaFold

Q9D8B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000019942
AA Change: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019942
Gene: ENSMUSG00000019806
AA Change: D112G

Domain	Start	End	E-Value	Type
Pfam:Far-17a_AIG1	12	219	5.6e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105534
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101174
Gene: ENSMUSG00000019806
AA Change: D112G

Domain	Start	End	E-Value	Type
Pfam:Far-17a_AIG1	12	178	3.4e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162174

Predicted Effect

probably damaging
Transcript: ENSMUST00000162610
AA Change: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125366
Gene: ENSMUSG00000019806
AA Change: D112G

Domain	Start	End	E-Value	Type
Pfam:Far-17a_AIG1	12	219	5.4e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162798

Meta Mutation Damage Score

0.9298

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	T	A	12: 18,584,082 (GRCm39)	Y381N	possibly damaging	Het
Adgrf3	T	C	5: 30,405,432 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,623,166 (GRCm39)	F3819S	probably benign	Het
Akap6	C	T	12: 53,187,227 (GRCm39)	T1547M	possibly damaging	Het
Alk	T	A	17: 72,512,949 (GRCm39)	I337F	probably damaging	Het
C2cd5	C	T	6: 142,987,106 (GRCm39)	V499I	possibly damaging	Het
Capn11	A	T	17: 45,945,213 (GRCm39)		probably benign	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Cmbl	A	G	15: 31,589,933 (GRCm39)	D221G	possibly damaging	Het
Enpp2	A	G	15: 54,709,317 (GRCm39)	V766A	probably benign	Het
Fastk	G	T	5: 24,647,257 (GRCm39)	S317*	probably null	Het
Fgfr1op2	T	A	6: 146,496,669 (GRCm39)		probably benign	Het
Gpr85	A	G	6: 13,836,044 (GRCm39)	F287L	probably benign	Het
Hectd4	G	A	5: 121,458,164 (GRCm39)		probably null	Het
Hmcn2	T	A	2: 31,270,496 (GRCm39)		probably null	Het
Hspbp1	A	T	7: 4,667,594 (GRCm39)	M271K	probably benign	Het
Itgb6	G	A	2: 60,441,755 (GRCm39)	T685M	possibly damaging	Het
Itih5	G	A	2: 10,250,355 (GRCm39)	V685I	probably damaging	Het
Kalrn	T	C	16: 34,130,901 (GRCm39)	S421G	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mitf	C	T	6: 97,970,214 (GRCm39)	P54S	probably damaging	Het
Perm1	A	G	4: 156,303,627 (GRCm39)	T724A	probably benign	Het
Pex5l	T	C	3: 33,061,321 (GRCm39)	E176G	probably damaging	Het
Polk	A	T	13: 96,638,143 (GRCm39)	M192K	possibly damaging	Het
Polr3a	T	C	14: 24,526,169 (GRCm39)	I401V	probably benign	Het
Prpf38b	T	C	3: 108,811,741 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,886,938 (GRCm39)	S330P	probably damaging	Het
Slc16a7	C	A	10: 125,066,712 (GRCm39)	R309L	probably damaging	Het
Slc35f1	C	T	10: 52,984,314 (GRCm39)	T358I	probably damaging	Het
Slc39a12	T	A	2: 14,439,174 (GRCm39)		probably benign	Het
Sod3	T	C	5: 52,525,987 (GRCm39)	S229P	probably benign	Het
Sorcs3	T	A	19: 48,701,943 (GRCm39)	V608D	probably damaging	Het
Spink5	G	T	18: 44,149,494 (GRCm39)	K958N	probably damaging	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 187,995,708 (GRCm39)		probably null	Het
Vmn2r19	T	A	6: 123,292,628 (GRCm39)	D223E	probably damaging	Het
Vwf	T	A	6: 125,532,462 (GRCm39)	S87T	probably damaging	Het
Wdr35	G	T	12: 9,058,014 (GRCm39)	G513C	probably damaging	Het

Other mutations in Aig1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Aig1	APN	10	13,744,418 (GRCm39)	missense	probably damaging	0.99
IGL02715:Aig1	APN	10	13,744,360 (GRCm39)	critical splice donor site	probably null
R0697:Aig1	UTSW	10	13,705,069 (GRCm39)	missense	probably benign	0.01
R1699:Aig1	UTSW	10	13,744,366 (GRCm39)	missense	possibly damaging	0.85
R1761:Aig1	UTSW	10	13,566,328 (GRCm39)	missense	probably damaging	1.00
R4397:Aig1	UTSW	10	13,528,726 (GRCm39)	missense	probably benign	0.00
R4736:Aig1	UTSW	10	13,677,674 (GRCm39)	missense	probably damaging	0.97
R4767:Aig1	UTSW	10	13,677,602 (GRCm39)	missense	probably damaging	1.00
R5081:Aig1	UTSW	10	13,677,644 (GRCm39)	missense	probably benign	0.01
R5907:Aig1	UTSW	10	13,677,528 (GRCm39)	intron	probably benign
R7944:Aig1	UTSW	10	13,744,417 (GRCm39)	missense	probably damaging	1.00
R9105:Aig1	UTSW	10	13,529,339 (GRCm39)	missense	probably benign	0.10
R9270:Aig1	UTSW	10	13,529,505 (GRCm39)	splice site	probably null
R9381:Aig1	UTSW	10	13,523,417 (GRCm39)	missense	probably benign	0.39
R9778:Aig1	UTSW	10	13,528,757 (GRCm39)	critical splice acceptor site	probably null
X0018:Aig1	UTSW	10	13,566,268 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAATGGCTCGGTTCCACAG -3'
(R):5'- GCAGCTGCTACTATAGAGCAAC -3'

Sequencing Primer
(F):5'- GGTTCCACAGGACAAATCTCATTTAC -3'
(R):5'- TCCAAGCTCTCTTGGGTT -3'

Posted On

2015-04-17