Mutagenetix > Incidental Mutation

Incidental Mutation 'R9796:AU018091'

734936

Institutional Source

Beutler Lab

Gene Symbol

AU018091

Ensembl Gene

ENSMUSG00000054753

Gene Name

expressed sequence AU018091

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R9796 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3204498-3219029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3213785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 153 (V153D)

Ref Sequence

ENSEMBL: ENSMUSP00000126800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]

AlphaFold

E9PWS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000171749
AA Change: V153D

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

SMART Domains

Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: V153D

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	82	504	2.9e-47	PFAM
Pfam:AA_permease	86	481	3.5e-31	PFAM
transmembrane domain	541	563	N/A	INTRINSIC
transmembrane domain	573	593	N/A	INTRINSIC
Pfam:AA_permease_C	604	654	9.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203937
AA Change: V144D

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

SMART Domains

Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753
AA Change: V144D

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	73	177	7.9e-11	PFAM
Pfam:AA_permease	77	176	3.1e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	T	10: 29,101,349 (GRCm39)	T574I	possibly damaging	Het
Aadac	T	G	3: 59,945,882 (GRCm39)	V184G	probably damaging	Het
Adam6b	G	A	12: 113,454,272 (GRCm39)	C363Y	probably damaging	Het
Adamts8	T	A	9: 30,862,569 (GRCm39)	I258N	probably damaging	Het
Adarb2	C	T	13: 8,619,852 (GRCm39)	L113F	probably damaging	Het
Aff4	A	G	11: 53,302,824 (GRCm39)	N1099S	probably damaging	Het
Alg10b	G	T	15: 90,108,728 (GRCm39)	A30S	possibly damaging	Het
Als2	T	A	1: 59,209,601 (GRCm39)	E1460D	probably benign	Het
Ascc3	C	T	10: 50,608,801 (GRCm39)	R1515*	probably null	Het
Asxl2	C	T	12: 3,546,508 (GRCm39)	P431S	probably benign	Het
Cd177	A	G	7: 24,459,169 (GRCm39)	V80A	probably benign	Het
Cdc16	G	T	8: 13,807,693 (GRCm39)		probably benign	Het
Cdk14	A	G	5: 5,316,012 (GRCm39)	S4P	probably benign	Het
Ctu2	A	T	8: 123,202,989 (GRCm39)	Y8F	probably benign	Het
Dnhd1	T	C	7: 105,342,537 (GRCm39)	F1294L	probably damaging	Het
Epha7	A	G	4: 28,817,457 (GRCm39)	D37G	probably damaging	Het
Fan1	T	A	7: 64,022,278 (GRCm39)	N325I	probably benign	Het
Fbn1	T	A	2: 125,158,941 (GRCm39)	M2275L	probably benign	Het
Fbxo38	T	C	18: 62,674,055 (GRCm39)	K9E	possibly damaging	Het
Gm3696	T	C	14: 18,435,140 (GRCm39)	N48S	possibly damaging	Het
Greb1l	A	G	18: 10,538,233 (GRCm39)	E1082G	possibly damaging	Het
Gtdc1	A	T	2: 44,715,386 (GRCm39)	N52K	probably benign	Het
Hrh2	C	T	13: 54,375,241 (GRCm39)	T359I	probably benign	Het
Ifi44l	A	G	3: 151,468,419 (GRCm39)	V37A		Het
Igfn1	C	A	1: 135,897,611 (GRCm39)	W985L	probably benign	Het
Il22b	A	G	10: 118,130,081 (GRCm39)	S108P	probably benign	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Kcnv1	T	C	15: 44,977,987 (GRCm39)	D17G	unknown	Het
Klk1	T	C	7: 43,877,965 (GRCm39)	W74R	possibly damaging	Het
Lmntd2	A	T	7: 140,793,597 (GRCm39)	N96K	possibly damaging	Het
Lrch4	A	G	5: 137,635,269 (GRCm39)	H253R	probably damaging	Het
Lrrc8d	A	T	5: 105,959,917 (GRCm39)	D109V	probably benign	Het
Magi3	T	C	3: 103,928,291 (GRCm39)	T1004A	probably benign	Het
Mapk10	A	G	5: 103,135,101 (GRCm39)	V287A	possibly damaging	Het
Mtss2	G	A	8: 111,456,753 (GRCm39)		probably null	Het
Mybpc1	T	C	10: 88,406,497 (GRCm39)	I116V	possibly damaging	Het
Mylk4	T	A	13: 32,900,643 (GRCm39)	M296L	probably damaging	Het
Nav3	A	G	10: 109,527,969 (GRCm39)	F2238S	probably damaging	Het
Or11g26	G	T	14: 50,753,229 (GRCm39)	L189F	probably damaging	Het
Pax6	T	C	2: 105,522,541 (GRCm39)	F243L	probably damaging	Het
Pcdhb22	G	A	18: 37,652,404 (GRCm39)	E34K	possibly damaging	Het
Pdzrn4	T	A	15: 92,578,353 (GRCm39)	F359I	possibly damaging	Het
Prkn	A	T	17: 11,456,554 (GRCm39)	D126V	possibly damaging	Het
Rnf168	C	T	16: 32,117,872 (GRCm39)	R478C	probably damaging	Het
Sh3gl2	G	A	4: 85,295,765 (GRCm39)	V156I	possibly damaging	Het
Taf2	A	T	15: 54,910,832 (GRCm39)	M614K	probably damaging	Het
Tbc1d31	G	A	15: 57,833,179 (GRCm39)	V973M	probably damaging	Het
Tmem131l	T	G	3: 83,829,402 (GRCm39)	K1085T	probably damaging	Het
Tpst1	A	G	5: 130,163,300 (GRCm39)	T366A	probably benign	Het
Unc50	A	G	1: 37,471,679 (GRCm39)	T110A	probably benign	Het
Vmn2r60	A	G	7: 41,785,172 (GRCm39)	H128R	probably benign	Het
Vps13a	A	T	19: 16,631,828 (GRCm39)	N2602K	probably benign	Het
Vps13d	A	G	4: 144,854,505 (GRCm39)		probably null	Het
Vps50	A	G	6: 3,562,300 (GRCm39)	E465G	probably damaging	Het

Other mutations in AU018091

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:AU018091	APN	7	3,208,603 (GRCm39)	missense	probably benign	0.01
IGL01063:AU018091	APN	7	3,212,153 (GRCm39)	missense	possibly damaging	0.62
IGL01598:AU018091	APN	7	3,212,110 (GRCm39)	missense	possibly damaging	0.71
IGL03253:AU018091	APN	7	3,214,002 (GRCm39)	missense	probably damaging	1.00
IGL03386:AU018091	APN	7	3,211,107 (GRCm39)	missense	probably damaging	1.00
IGL02835:AU018091	UTSW	7	3,218,897 (GRCm39)	missense	unknown
R0070:AU018091	UTSW	7	3,208,738 (GRCm39)	splice site	probably null
R0070:AU018091	UTSW	7	3,208,738 (GRCm39)	splice site	probably null
R0733:AU018091	UTSW	7	3,209,001 (GRCm39)	missense	probably damaging	1.00
R1221:AU018091	UTSW	7	3,208,717 (GRCm39)	missense	probably damaging	1.00
R1467:AU018091	UTSW	7	3,214,089 (GRCm39)	missense	probably benign	0.01
R1467:AU018091	UTSW	7	3,214,089 (GRCm39)	missense	probably benign	0.01
R1708:AU018091	UTSW	7	3,206,184 (GRCm39)	missense	probably damaging	1.00
R1990:AU018091	UTSW	7	3,212,104 (GRCm39)	missense	probably benign	0.25
R4043:AU018091	UTSW	7	3,208,962 (GRCm39)	missense	probably damaging	1.00
R4369:AU018091	UTSW	7	3,207,815 (GRCm39)	nonsense	probably null
R4501:AU018091	UTSW	7	3,208,919 (GRCm39)	missense	probably benign	0.25
R4595:AU018091	UTSW	7	3,208,268 (GRCm39)	missense	possibly damaging	0.91
R4853:AU018091	UTSW	7	3,205,861 (GRCm39)	missense	probably damaging	1.00
R6834:AU018091	UTSW	7	3,207,795 (GRCm39)	missense	probably benign	0.06
R6836:AU018091	UTSW	7	3,213,986 (GRCm39)	missense	probably damaging	1.00
R6941:AU018091	UTSW	7	3,209,267 (GRCm39)	critical splice donor site	probably null
R7153:AU018091	UTSW	7	3,209,353 (GRCm39)	missense	probably benign	0.01
R7196:AU018091	UTSW	7	3,213,788 (GRCm39)	missense	probably damaging	1.00
R7237:AU018091	UTSW	7	3,209,006 (GRCm39)	missense	probably benign	0.00
R7366:AU018091	UTSW	7	3,206,170 (GRCm39)	missense	probably damaging	1.00
R7956:AU018091	UTSW	7	3,211,095 (GRCm39)	missense	probably benign	0.02
R9421:AU018091	UTSW	7	3,208,085 (GRCm39)	missense	probably benign	0.12
R9492:AU018091	UTSW	7	3,214,023 (GRCm39)	missense	probably benign	0.02
R9700:AU018091	UTSW	7	3,208,165 (GRCm39)	missense	probably benign
R9720:AU018091	UTSW	7	3,209,272 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AATTCCTGGCAGGCTGAGTG -3'
(R):5'- TCTGACCACTTTGGACCTGG -3'

Sequencing Primer
(F):5'- GAGCTACATGAGACCCTGTATTC -3'
(R):5'- CCTTGGGTGTGGGCAGTACC -3'

Posted On

2022-11-14