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: 0.072) question?

Stock #

IGL02557

Quality Score

Status

Chromosome

Chromosomal Location

130659713-130672359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130670444 bp (GRCm39)

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
Alg12	T	A	15: 88,700,410 (GRCm39)	K9*	probably null	Het
Arhgap20	T	C	9: 51,732,573 (GRCm39)	V119A	probably damaging	Het
Arhgap45	T	C	10: 79,857,472 (GRCm39)	Y178H	probably damaging	Het
Atad2	A	T	15: 57,985,993 (GRCm39)	S243T	probably benign	Het
Atp13a5	A	C	16: 29,066,934 (GRCm39)	F1013V	probably benign	Het
Atp1a2	T	G	1: 172,106,218 (GRCm39)	T865P	possibly damaging	Het
Bcas2	T	C	3: 103,079,183 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,985 (GRCm39)	S297P	unknown	Het
Cdk5	A	T	5: 24,624,651 (GRCm39)	S215T	probably benign	Het
Ciita	T	A	16: 10,329,879 (GRCm39)	L798Q	probably damaging	Het
Clcn2	A	G	16: 20,527,214 (GRCm39)	S584P	probably damaging	Het
Cntn6	A	G	6: 104,751,496 (GRCm39)	Y384C	probably damaging	Het
Cyp2b10	T	A	7: 25,614,306 (GRCm39)	V260D	probably benign	Het
Dsel	A	T	1: 111,790,300 (GRCm39)	H78Q	probably damaging	Het
Eml3	T	C	19: 8,908,745 (GRCm39)		probably benign	Het
Fcgr2b	C	A	1: 170,790,891 (GRCm39)		probably null	Het
Fryl	A	T	5: 73,255,736 (GRCm39)	L765Q	probably damaging	Het
Gas2	T	A	7: 51,537,681 (GRCm39)	M2K	probably damaging	Het
Gm13941	T	C	2: 110,931,501 (GRCm39)	K44E	unknown	Het
Gm42878	A	G	5: 121,665,194 (GRCm39)	S205P	possibly damaging	Het
Hcn3	A	T	3: 89,057,178 (GRCm39)	S473R	probably damaging	Het
Hnrnpr	A	G	4: 136,046,817 (GRCm39)	E65G	probably damaging	Het
Ints1	A	T	5: 139,757,392 (GRCm39)	V375E	probably damaging	Het
Lama5	A	T	2: 179,832,725 (GRCm39)	C1642*	probably null	Het
Lsr	T	G	7: 30,657,919 (GRCm39)	E347A	possibly damaging	Het
Mapre2	C	A	18: 23,966,014 (GRCm39)	T33K	probably damaging	Het
Myo3b	T	A	2: 70,085,663 (GRCm39)	F772I	probably benign	Het
Myorg	C	T	4: 41,497,900 (GRCm39)	V577M	possibly damaging	Het
Nbas	T	C	12: 13,411,029 (GRCm39)	V891A	probably damaging	Het
Neurl4	A	T	11: 69,797,161 (GRCm39)	I583F	probably damaging	Het
Nsd1	T	C	13: 55,460,261 (GRCm39)	S2163P	probably damaging	Het
Nup210l	T	C	3: 90,031,537 (GRCm39)	Y288H	probably damaging	Het
Or10ak8	T	C	4: 118,774,389 (GRCm39)	T92A	probably benign	Het
Or4c107	A	G	2: 88,789,025 (GRCm39)	I72V	probably benign	Het
Pak1	A	G	7: 97,520,794 (GRCm39)	E151G	probably benign	Het
Phtf1	A	G	3: 103,906,081 (GRCm39)	N588D	probably damaging	Het
Prom2	T	C	2: 127,371,391 (GRCm39)	T756A	possibly damaging	Het
Ptgfrn	C	T	3: 100,967,952 (GRCm39)		probably null	Het
Seh1l	T	C	18: 67,922,483 (GRCm39)	S279P	probably benign	Het
Sema3f	A	T	9: 107,564,411 (GRCm39)	M35K	probably damaging	Het
Spesp1	T	C	9: 62,180,416 (GRCm39)	E164G	possibly damaging	Het
Sprr3	T	C	3: 92,364,473 (GRCm39)	T124A	possibly damaging	Het
Trim24	A	C	6: 37,942,434 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,148,418 (GRCm39)		probably benign	Het
Vmn2r77	T	A	7: 86,444,342 (GRCm39)		probably benign	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130,670,573 (GRCm39)	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130,670,459 (GRCm39)	missense	possibly damaging	0.70
IGL03003:AA986860	APN	1	130,671,509 (GRCm39)	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130,671,130 (GRCm39)	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130,670,635 (GRCm39)	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130,671,562 (GRCm39)	missense	probably damaging	1.00
R0906:AA986860	UTSW	1	130,665,430 (GRCm39)	splice site	probably benign
R0932:AA986860	UTSW	1	130,665,430 (GRCm39)	splice site	probably null
R1522:AA986860	UTSW	1	130,670,831 (GRCm39)	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130,665,425 (GRCm39)	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130,670,428 (GRCm39)	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130,668,806 (GRCm39)	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130,670,906 (GRCm39)	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130,671,041 (GRCm39)	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130,668,926 (GRCm39)	splice site	probably benign
R3915:AA986860	UTSW	1	130,670,344 (GRCm39)	missense	probably benign
R4679:AA986860	UTSW	1	130,670,140 (GRCm39)	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130,671,092 (GRCm39)	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130,668,725 (GRCm39)	splice site	probably benign
R4988:AA986860	UTSW	1	130,670,447 (GRCm39)	missense	probably damaging	1.00
R5171:AA986860	UTSW	1	130,670,584 (GRCm39)	missense	probably benign	0.23
R5327:AA986860	UTSW	1	130,668,740 (GRCm39)	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130,670,678 (GRCm39)	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130,670,768 (GRCm39)	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130,668,908 (GRCm39)	nonsense	probably null
R6247:AA986860	UTSW	1	130,670,780 (GRCm39)	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130,670,624 (GRCm39)	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130,671,284 (GRCm39)	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130,670,728 (GRCm39)	missense	probably benign	0.23

Posted On

2015-04-16