Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:AA986860'

426734

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

042990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130742941 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 300 (A300D)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039323]

AlphaFold

Q8BI29

Predicted Effect

probably damaging
Transcript: ENSMUST00000039323
AA Change: A300D

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

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: A300D

Domain	Start	End	E-Value	Type
Pfam:SARG	33	606	1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190859

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,211,554 (GRCm38)	Y119H	probably benign	Het
Actb	A	G	5: 142,905,551 (GRCm38)		probably benign	Het
Ada	T	A	2: 163,728,125 (GRCm38)	K323*	probably null	Het
Adam22	C	A	5: 8,090,182 (GRCm38)	G202W	probably damaging	Het
Aire	A	T	10: 78,036,719 (GRCm38)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,812,100 (GRCm38)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,795,897 (GRCm38)	R205H	probably damaging	Het
Clca2	A	G	3: 145,084,181 (GRCm38)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,516,057 (GRCm38)	M345L	probably benign	Het
Ddx54	T	C	5: 120,619,861 (GRCm38)		probably null	Het
Dnah14	T	G	1: 181,763,310 (GRCm38)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,318,940 (GRCm38)	Y483*	probably null	Het
Ermard	T	A	17: 15,059,770 (GRCm38)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,945,763 (GRCm38)	H867N	unknown	Het
Fchsd1	C	T	18: 37,959,873 (GRCm38)		probably benign	Het
Gas8	C	A	8: 123,526,512 (GRCm38)	L200I	possibly damaging	Het
Gfra2	A	T	14: 70,895,847 (GRCm38)	D39V	probably damaging	Het
Gm10770	T	C	2: 150,179,028 (GRCm38)	T190A	probably benign	Het
Gm2617	T	C	19: 9,323,956 (GRCm38)		noncoding transcript	Het
Gm5592	C	T	7: 41,155,593 (GRCm38)		probably benign	Het
Gmppb	T	A	9: 108,052,005 (GRCm38)		probably null	Het
Ifit2	T	A	19: 34,574,058 (GRCm38)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,307,930 (GRCm38)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,031,509 (GRCm38)		noncoding transcript	Het
Kdelr2	A	C	5: 143,418,144 (GRCm38)	E96A	probably benign	Het
Lama2	G	A	10: 26,984,396 (GRCm38)	R3032C	probably damaging	Het
Lipg	T	A	18: 74,954,253 (GRCm38)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,480,703 (GRCm38)	V305A	probably damaging	Het
Marveld2	T	C	13: 100,612,187 (GRCm38)	H128R	probably benign	Het
Mgat4a	A	G	1: 37,466,555 (GRCm38)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,941,612 (GRCm38)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 40,606,830 (GRCm38)	V80A	probably benign	Het
Ndrg2	A	G	14: 51,908,885 (GRCm38)	S153P	probably damaging	Het
Nelfa	C	T	5: 33,921,845 (GRCm38)		probably null	Het
Nes	G	T	3: 87,978,824 (GRCm38)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,979,475 (GRCm38)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,758,882 (GRCm38)	I254K	probably benign	Het
Or56b35	T	C	7: 105,314,571 (GRCm38)	V189A	possibly damaging	Het
Or8k24	G	A	2: 86,385,840 (GRCm38)	Q193*	probably null	Het
Pcdhga7	G	A	18: 37,715,335 (GRCm38)	A132T	probably benign	Het
Pla1a	T	A	16: 38,414,775 (GRCm38)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,490,022 (GRCm38)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,806,898 (GRCm38)		probably benign	Het
Scn5a	T	C	9: 119,501,734 (GRCm38)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,186,108 (GRCm38)	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,478,747 (GRCm38)	A111S	probably benign	Het
Srcin1	T	A	11: 97,537,059 (GRCm38)	K236*	probably null	Het
Tbxas1	A	G	6: 39,027,905 (GRCm38)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,180,016 (GRCm38)	I116T	possibly damaging	Het
Tgm7	T	A	2: 121,099,041 (GRCm38)	M251L	probably damaging	Het
Tnn	T	A	1: 160,122,702 (GRCm38)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 54,681,399 (GRCm38)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,769 (GRCm38)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,882,703 (GRCm38)	H1351N	possibly damaging	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130,742,836 (GRCm38)	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130,742,722 (GRCm38)	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130,742,707 (GRCm38)	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130,743,772 (GRCm38)	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130,743,393 (GRCm38)	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130,742,898 (GRCm38)	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130,743,825 (GRCm38)	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably benign
R0932:AA986860	UTSW	1	130,737,693 (GRCm38)	splice site	probably null
R1522:AA986860	UTSW	1	130,743,094 (GRCm38)	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130,737,688 (GRCm38)	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130,742,691 (GRCm38)	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130,741,069 (GRCm38)	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130,743,169 (GRCm38)	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130,743,304 (GRCm38)	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130,741,189 (GRCm38)	splice site	probably benign
R3915:AA986860	UTSW	1	130,742,607 (GRCm38)	missense	probably benign
R4679:AA986860	UTSW	1	130,742,403 (GRCm38)	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130,743,355 (GRCm38)	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130,740,988 (GRCm38)	splice site	probably benign
R4988:AA986860	UTSW	1	130,742,710 (GRCm38)	missense	probably damaging	1.00
R5171:AA986860	UTSW	1	130,742,847 (GRCm38)	missense	probably benign	0.23
R5327:AA986860	UTSW	1	130,741,003 (GRCm38)	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130,743,031 (GRCm38)	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130,741,171 (GRCm38)	nonsense	probably null
R6247:AA986860	UTSW	1	130,743,043 (GRCm38)	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130,742,887 (GRCm38)	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130,743,547 (GRCm38)	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130,742,991 (GRCm38)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- CTCTGGAGAGAAGTCCACATTCC -3'
(R):5'- CTGGGATCATCTTGGTCCTG -3'

Sequencing Primer
(F):5'- TCCCAGAAGAAAGTGGAAATGTCTTC -3'
(R):5'- ATCATCTTGGTCCTGGGGCAG -3'

Posted On

2016-09-01