Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:AA986860'

407439

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 #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

130659713-130672359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130671509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 577 (P577L)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

probably damaging
Transcript: ENSMUST00000039323
AA Change: P577L

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

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: P577L

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	A	T	1: 38,248,651 (GRCm39)	S819T	probably damaging	Het
Aftph	G	T	11: 20,676,982 (GRCm39)	S209*	probably null	Het
Astn1	T	A	1: 158,439,965 (GRCm39)	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,828,608 (GRCm39)	K29E	probably benign	Het
Ccdc93	T	C	1: 121,390,846 (GRCm39)	S273P	possibly damaging	Het
Cd200r3	C	A	16: 44,764,139 (GRCm39)	H2N	probably benign	Het
Cd200r3	G	T	16: 44,764,138 (GRCm39)	M1I	probably null	Het
Col7a1	G	A	9: 108,804,024 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,642,640 (GRCm39)	M240L	probably benign	Het
Dcstamp	T	C	15: 39,617,906 (GRCm39)	V105A	possibly damaging	Het
Dmbt1	C	A	7: 130,684,409 (GRCm39)	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,469,876 (GRCm39)	M634K	probably benign	Het
Farp2	T	C	1: 93,495,140 (GRCm39)	Y138H	probably damaging	Het
Fga	T	C	3: 82,940,037 (GRCm39)	S564P	probably damaging	Het
Gbf1	T	C	19: 46,244,094 (GRCm39)	L142S	probably damaging	Het
Gm5422	T	C	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Helz2	A	G	2: 180,882,046 (GRCm39)	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,323,498 (GRCm39)	T4204K	probably damaging	Het
Ift81	T	C	5: 122,732,725 (GRCm39)	I270V	probably benign	Het
Katnip	A	T	7: 125,451,132 (GRCm39)	I1088F	probably damaging	Het
Kif6	C	T	17: 50,060,899 (GRCm39)	R411*	probably null	Het
Klhl35	T	A	7: 99,119,550 (GRCm39)	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,340,531 (GRCm39)	D1531E	probably benign	Het
Muc5b	C	A	7: 141,417,351 (GRCm39)	D3432E	probably benign	Het
Nipbl	A	T	15: 8,379,798 (GRCm39)	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,782,726 (GRCm39)	V228L	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,424,910 (GRCm39)	A210V	possibly damaging	Het
Or13a18	A	G	7: 140,190,283 (GRCm39)	Y60C	probably damaging	Het
Or1l4b	T	C	2: 37,036,464 (GRCm39)	V80A	probably benign	Het
Osbpl7	T	C	11: 96,941,521 (GRCm39)	Y15H	probably benign	Het
Pde8b	T	A	13: 95,178,465 (GRCm39)	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,892,123 (GRCm39)	S280T	probably benign	Het
Pkd1	T	A	17: 24,812,577 (GRCm39)		probably null	Het
Polh	A	T	17: 46,505,292 (GRCm39)	V108E	possibly damaging	Het
Prob1	A	G	18: 35,786,428 (GRCm39)	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,582 (GRCm39)	N1557K	probably damaging	Het
Rev1	A	C	1: 38,127,154 (GRCm39)	F369V	possibly damaging	Het
Rgma	A	G	7: 73,067,188 (GRCm39)	N148D	probably damaging	Het
Robo3	A	G	9: 37,330,587 (GRCm39)	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Sema6c	T	C	3: 95,076,925 (GRCm39)	L337P	probably damaging	Het
Shc4	A	T	2: 125,565,253 (GRCm39)	Y15*	probably null	Het
Slc4a9	T	C	18: 36,669,946 (GRCm39)	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,035,168 (GRCm39)	N864D	probably damaging	Het
Sspo	T	C	6: 48,432,021 (GRCm39)	L745P	probably damaging	Het
Syce1l	A	G	8: 114,380,699 (GRCm39)	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,473,781 (GRCm39)	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,711,887 (GRCm39)	D7G	probably benign	Het
Tmem109	A	C	19: 10,851,695 (GRCm39)	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,350,834 (GRCm39)	R333G	probably damaging	Het
Ttn	T	G	2: 76,611,955 (GRCm39)	S17316R	probably damaging	Het
Usp10	A	G	8: 120,681,549 (GRCm39)	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,345,906 (GRCm39)	F2716I	possibly damaging	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
IGL02557:AA986860	APN	1	130,670,444 (GRCm39)	missense	probably benign	0.02
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

2016-08-02