Mutagenetix > Incidental Mutation

Incidental Mutation 'R7956:AU018091'

649821

Institutional Source

Beutler Lab

Gene Symbol

AU018091

Ensembl Gene

ENSMUSG00000054753

Gene Name

expressed sequence AU018091

Synonyms

MMRRC Submission

046000-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R7956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3204498-3219029 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3211095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 278 (L278Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126800 (fasta)

Gene Model

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

AlphaFold

E9PWS4

Predicted Effect

probably benign
Transcript: ENSMUST00000171749
AA Change: L278Q

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: L278Q

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 benign
Transcript: ENSMUST00000203937

SMART Domains

Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	T	C	15: 84,834,963 (GRCm39)	S332G	possibly damaging	Het
Acaca	A	T	11: 84,211,406 (GRCm39)	N1573Y	probably damaging	Het
Arhgef33	A	G	17: 80,662,477 (GRCm39)	K220R	possibly damaging	Het
Arsj	A	T	3: 126,232,151 (GRCm39)	D299V	probably damaging	Het
Asic3	A	C	5: 24,621,975 (GRCm39)	I412L	possibly damaging	Het
Baat	A	T	4: 49,490,117 (GRCm39)	F322L	probably damaging	Het
Bap1	A	G	14: 30,977,525 (GRCm39)	Q280R	probably benign	Het
Bet1	T	C	6: 4,079,965 (GRCm39)	E66G	probably benign	Het
Brpf1	T	C	6: 113,297,493 (GRCm39)	S1000P	probably benign	Het
Ccdc78	A	T	17: 26,006,091 (GRCm39)	E86D	possibly damaging	Het
Ccdc88a	T	G	11: 29,413,892 (GRCm39)	L810R	probably damaging	Het
Cd209f	T	C	8: 4,154,859 (GRCm39)	T80A	probably benign	Het
Chrna7	T	G	7: 62,753,541 (GRCm39)	K326T	possibly damaging	Het
Cldn15	T	C	5: 137,003,504 (GRCm39)	S169P	probably damaging	Het
Cmklr2	T	C	1: 63,222,665 (GRCm39)	N190S	probably damaging	Het
Corin	A	G	5: 72,579,530 (GRCm39)	S281P	probably damaging	Het
Coro1a	A	G	7: 126,300,727 (GRCm39)	V200A	probably benign	Het
Crebrf	C	G	17: 26,961,631 (GRCm39)	P243A	probably benign	Het
Cxxc1	T	G	18: 74,352,054 (GRCm39)		probably null	Het
Dera	C	T	6: 137,813,826 (GRCm39)	T282M	probably benign	Het
Dnah12	A	T	14: 26,430,427 (GRCm39)	D345V	probably damaging	Het
Dop1b	T	C	16: 93,567,916 (GRCm39)		probably null	Het
Dst	T	A	1: 34,264,699 (GRCm39)	V2623E	probably damaging	Het
Dysf	T	C	6: 83,985,978 (GRCm39)	F28L	probably benign	Het
Eogt	C	A	6: 97,120,926 (GRCm39)	V96F	probably benign	Het
Exoc1	A	T	5: 76,705,704 (GRCm39)	T464S	probably benign	Het
Fam234a	A	G	17: 26,435,551 (GRCm39)	Y278H	probably damaging	Het
Gatd3a	T	C	10: 77,999,405 (GRCm39)		probably null	Het
Gne	T	A	4: 44,044,962 (GRCm39)	I391L	probably benign	Het
Gpr22	G	T	12: 31,759,219 (GRCm39)	T301K	possibly damaging	Het
Gria1	A	G	11: 57,080,626 (GRCm39)	D203G	possibly damaging	Het
Grin2c	T	C	11: 115,140,974 (GRCm39)	E1048G	probably benign	Het
Hcn4	A	G	9: 58,751,456 (GRCm39)	T361A	unknown	Het
Herc2	T	C	7: 55,763,148 (GRCm39)	S918P	probably damaging	Het
Hr	A	G	14: 70,797,327 (GRCm39)	E520G	probably benign	Het
Idi1	T	G	13: 8,937,996 (GRCm39)	S147R	possibly damaging	Het
Irf9	G	A	14: 55,846,481 (GRCm39)	G464E	probably benign	Het
Kif16b	T	C	2: 142,704,390 (GRCm39)	Y63C	probably benign	Het
Klhl31	A	T	9: 77,557,903 (GRCm39)	E206D	probably benign	Het
Lrch3	A	G	16: 32,806,377 (GRCm39)	M454V	probably null	Het
Lrp1b	A	C	2: 41,172,161 (GRCm39)		probably null	Het
Lyst	A	G	13: 13,815,788 (GRCm39)	D1224G	possibly damaging	Het
Maf1	T	A	15: 76,236,696 (GRCm39)	F9L	probably benign	Het
Mllt10	T	A	2: 18,175,068 (GRCm39)	I542N	probably benign	Het
Mrpl19	T	C	6: 81,940,962 (GRCm39)	N143S	probably benign	Het
Myo5c	A	G	9: 75,159,845 (GRCm39)	N291S	probably benign	Het
Myocd	G	T	11: 65,160,494 (GRCm39)	L11M	possibly damaging	Het
Or2ag2	G	A	7: 106,485,178 (GRCm39)	T282I	possibly damaging	Het
Or5ac20	C	A	16: 59,104,856 (GRCm39)	M1I	probably null	Het
Or5an10	A	C	19: 12,275,666 (GRCm39)	F277V	probably damaging	Het
Otogl	T	C	10: 107,713,887 (GRCm39)	I511V	possibly damaging	Het
Phf19	T	C	2: 34,796,567 (GRCm39)	Y121C	possibly damaging	Het
Pik3c2a	T	C	7: 115,949,350 (GRCm39)	T1346A	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Polr2b	A	G	5: 77,468,092 (GRCm39)	T131A	probably benign	Het
Pom121	T	C	5: 135,412,815 (GRCm39)	T456A	unknown	Het
Pom121l2	T	C	13: 22,167,316 (GRCm39)	L529S	probably damaging	Het
Prss34	A	G	17: 25,518,553 (GRCm39)	I214V	probably benign	Het
Prss42	A	G	9: 110,628,402 (GRCm39)	Y182C	probably damaging	Het
Rapgef1	A	G	2: 29,589,027 (GRCm39)	I223V	probably benign	Het
Rbbp6	C	T	7: 122,600,561 (GRCm39)	P1523S	unknown	Het
Ripk1	T	G	13: 34,193,666 (GRCm39)	N9K	probably benign	Het
Six4	A	G	12: 73,150,535 (GRCm39)	L670S	possibly damaging	Het
Skint6	C	T	4: 112,703,894 (GRCm39)	D994N	possibly damaging	Het
Slc18a1	T	C	8: 69,491,466 (GRCm39)	D516G	probably benign	Het
Slc35g3	A	T	11: 69,651,623 (GRCm39)	Y121N	probably damaging	Het
Slc41a1	T	G	1: 131,771,766 (GRCm39)	S393R	possibly damaging	Het
Smg7	T	C	1: 152,719,953 (GRCm39)	H818R	probably benign	Het
Sorl1	A	G	9: 41,900,655 (GRCm39)	Y1686H	probably damaging	Het
Stab1	G	T	14: 30,881,981 (GRCm39)	T521K	probably benign	Het
Stard9	T	A	2: 120,535,852 (GRCm39)	Y4036*	probably null	Het
Tek	T	G	4: 94,687,580 (GRCm39)		probably null	Het
Tex35	C	T	1: 156,927,742 (GRCm39)	D143N	probably damaging	Het
Tgm1	T	A	14: 55,946,352 (GRCm39)	H428L	probably benign	Het
Tigd3	G	A	19: 5,942,594 (GRCm39)	P179S	possibly damaging	Het
Tnip3	T	A	6: 65,591,779 (GRCm39)		probably null	Het
Ttc1	A	G	11: 43,627,240 (GRCm39)		probably null	Het
Utp20	C	T	10: 88,618,476 (GRCm39)	E1175K	probably benign	Het
Vmn1r151	A	T	7: 22,199,085 (GRCm39)	S7T	possibly damaging	Het
Vmn1r34	T	A	6: 66,614,777 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,605,166 (GRCm39)	M494K	probably benign	Het
Vps26c	T	C	16: 94,302,505 (GRCm39)	N234D	probably damaging	Het
Vsig10l	T	C	7: 43,117,494 (GRCm39)	S594P	probably benign	Het
Zfp937	A	G	2: 150,081,076 (GRCm39)	S369G	probably benign	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
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
R9796:AU018091	UTSW	7	3,213,785 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTAGTCTACAGGACAGC -3'
(R):5'- CCATGTTAGGGTTCTTACTGCC -3'

Sequencing Primer
(F):5'- CTAGTCTACAGGACAGCCAAGG -3'
(R):5'- GTTAGGGTTCTTACTGCCTTCTTTC -3'

Posted On

2020-09-15