Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02557:AA986860'

298329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130742707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 222 (P222L)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: P222L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: P222L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI464131	C	T	4: 41,497,900 (GRCm38)	V577M	possibly damaging	Het
Alg12	T	A	15: 88,816,207 (GRCm38)	K9*	probably null	Het
Arhgap20	T	C	9: 51,821,273 (GRCm38)	V119A	probably damaging	Het
Arhgap45	T	C	10: 80,021,638 (GRCm38)	Y178H	probably damaging	Het
Atad2	A	T	15: 58,122,597 (GRCm38)	S243T	probably benign	Het
Atp13a5	A	C	16: 29,248,182 (GRCm38)	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,278,651 (GRCm38)	T865P	possibly damaging	Het
Bcas2	T	C	3: 103,171,867 (GRCm38)		probably benign	Het
Ccnk	T	C	12: 108,195,726 (GRCm38)	S297P	unknown	Het
Cdk5	A	T	5: 24,419,653 (GRCm38)	S215T	probably benign	Het
Ciita	T	A	16: 10,512,015 (GRCm38)	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,708,464 (GRCm38)	S584P	probably damaging	Het
Cntn6	A	G	6: 104,774,535 (GRCm38)	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,914,881 (GRCm38)	V260D	probably benign	Het
Dsel	A	T	1: 111,862,570 (GRCm38)	H78Q	probably damaging	Het
Eml3	T	C	19: 8,931,381 (GRCm38)		probably benign	Het
Fcgr2b	C	A	1: 170,963,322 (GRCm38)		probably null	Het
Fryl	A	T	5: 73,098,393 (GRCm38)	L765Q	probably damaging	Het
Gas2	T	A	7: 51,887,933 (GRCm38)	M2K	probably damaging	Het
Gm13941	T	C	2: 111,101,156 (GRCm38)	K44E	unknown	Het
Gm42878	A	G	5: 121,527,131 (GRCm38)	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,149,871 (GRCm38)	S473R	probably damaging	Het
Hnrnpr	A	G	4: 136,319,506 (GRCm38)	E65G	probably damaging	Het
Ints1	A	T	5: 139,771,637 (GRCm38)	V375E	probably damaging	Het
Lama5	A	T	2: 180,190,932 (GRCm38)	C1642*	probably null	Het
Lsr	T	G	7: 30,958,494 (GRCm38)	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,832,957 (GRCm38)	T33K	probably damaging	Het
Myo3b	T	A	2: 70,255,319 (GRCm38)	F772I	probably benign	Het
Nbas	T	C	12: 13,361,028 (GRCm38)	V891A	probably damaging	Het
Neurl4	A	T	11: 69,906,335 (GRCm38)	I583F	probably damaging	Het
Nsd1	T	C	13: 55,312,448 (GRCm38)	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,124,230 (GRCm38)	Y288H	probably damaging	Het
Olfr1212	A	G	2: 88,958,681 (GRCm38)	I72V	probably benign	Het
Olfr1329	T	C	4: 118,917,192 (GRCm38)	T92A	probably benign	Het
Pak1	A	G	7: 97,871,587 (GRCm38)	E151G	probably benign	Het
Phtf1	A	G	3: 103,998,765 (GRCm38)	N588D	probably damaging	Het
Prom2	T	C	2: 127,529,471 (GRCm38)	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 101,060,636 (GRCm38)		probably null	Het
Seh1l	T	C	18: 67,789,413 (GRCm38)	S279P	probably benign	Het
Sema3f	A	T	9: 107,687,212 (GRCm38)	M35K	probably damaging	Het
Spesp1	T	C	9: 62,273,134 (GRCm38)	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,457,166 (GRCm38)	T124A	possibly damaging	Het
Trim24	A	C	6: 37,965,499 (GRCm38)		probably null	Het
Unc79	A	G	12: 103,182,159 (GRCm38)		probably benign	Het
Vmn2r77	T	A	7: 86,795,134 (GRCm38)		probably benign	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
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
R5424:AA986860	UTSW	1	130,742,941 (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

Posted On

2015-04-16