Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:AA986860'

392064

Institutional Source

Beutler Lab

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 #

IGL02802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130659713-130672359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130671130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 451 (T451P)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: T451P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: T451P

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

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	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
IGL03003:AA986860	APN	1	130,671,509 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCAAAGTCAGGGAGGCTCAG -3'
(R):5'- TCTTTCCCAGAGATGTGCTG -3'

Sequencing Primer
(F):5'- TCAGACCCCTTCCCAGGC -3'
(R):5'- CCCAGAGATGTGCTGGTTTG -3'

Posted On

2016-06-09