Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:AA986860'

231889

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: 0.063) question?

Stock #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130743304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323
AA Change: D421G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: D421G

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,682,141 (GRCm38)	Y1319*	probably null	Het
Adamts1	T	G	16: 85,802,445 (GRCm38)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,570,290 (GRCm38)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,418,121 (GRCm38)	R669*	probably null	Het
Brip1	T	C	11: 86,139,145 (GRCm38)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,730,429 (GRCm38)	T148I	probably benign	Het
Ccdc110	C	A	8: 45,942,077 (GRCm38)	T335K	probably damaging	Het
Cd44	T	G	2: 102,814,284 (GRCm38)	D731A	probably damaging	Het
Cnot1	T	C	8: 95,775,358 (GRCm38)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,052,237 (GRCm38)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,199,000 (GRCm38)	H673L	probably benign	Het
Col3a1	C	T	1: 45,332,990 (GRCm38)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm38)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,819,433 (GRCm38)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,691,505 (GRCm38)	H234L	probably benign	Het
Drc3	C	T	11: 60,370,484 (GRCm38)	R154W	probably damaging	Het
Eef1d	A	G	15: 75,902,701 (GRCm38)	S370P	probably benign	Het
Fdx1l	T	C	9: 21,073,424 (GRCm38)	H28R	probably benign	Het
Fmo5	A	G	3: 97,645,878 (GRCm38)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334 (GRCm38)		probably null	Het
Fras1	T	C	5: 96,781,203 (GRCm38)	L3822P	probably damaging	Het
Gm13212	C	A	4: 145,622,569 (GRCm38)	T192N	probably benign	Het
Gm3604	G	T	13: 62,369,606 (GRCm38)	H313N	possibly damaging	Het
Heatr4	T	C	12: 83,975,081 (GRCm38)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,426,670 (GRCm38)	H834L	possibly damaging	Het
Insr	A	T	8: 3,204,762 (GRCm38)	C331S	probably damaging	Het
Itih4	C	T	14: 30,891,737 (GRCm38)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,677,953 (GRCm38)	V104I	probably benign	Het
Lrp2	C	T	2: 69,536,021 (GRCm38)	D245N	probably benign	Het
Map1b	T	C	13: 99,429,670 (GRCm38)	E2181G	unknown	Het
Map2	T	C	1: 66,399,440 (GRCm38)	V41A	probably damaging	Het
Mical3	A	T	6: 121,040,386 (GRCm38)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160 (GRCm38)	V249I	probably benign	Het
Myo5b	T	A	18: 74,759,192 (GRCm38)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,650,872 (GRCm38)	S548F	probably damaging	Het
Npas1	A	T	7: 16,459,277 (GRCm38)	N408K	probably benign	Het
Olfr1076	A	C	2: 86,509,243 (GRCm38)	Q261H	probably damaging	Het
Olfr339	A	T	2: 36,421,929 (GRCm38)	Y177F	probably benign	Het
Pcnx4	T	C	12: 72,579,442 (GRCm38)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,460,981 (GRCm38)	P64Q	probably damaging	Het
Prrxl1	C	T	14: 32,647,155 (GRCm38)		probably benign	Het
Ranbp3	T	A	17: 56,710,145 (GRCm38)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,787,764 (GRCm38)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,270,132 (GRCm38)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908 (GRCm38)		probably benign	Het
Rtn3	A	T	19: 7,456,850 (GRCm38)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,627,324 (GRCm38)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,943,122 (GRCm38)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm38)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,130 (GRCm38)	L609P	probably damaging	Het
Spata21	T	G	4: 141,096,966 (GRCm38)	V180G	probably benign	Het
Sptlc3	A	T	2: 139,625,874 (GRCm38)	I451F	possibly damaging	Het
Srl	A	G	16: 4,523,032 (GRCm38)	C8R	unknown	Het
Tmprss13	A	G	9: 45,345,042 (GRCm38)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,635,504 (GRCm38)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,354,685 (GRCm38)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,801,494 (GRCm38)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,395,979 (GRCm38)	T604I	probably benign	Het
Zfp354a	C	T	11: 51,069,724 (GRCm38)	T254I	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CAAGATGATCCCAGTCTGCTTG -3'
(R):5'- TGCTGAGAGATAGCTGCTCAG -3'

Sequencing Primer
(F):5'- GATCCCAGTCTGCTTGTAAATAAG -3'
(R):5'- AACGCTCCAGAGTATTGGACTTG -3'

Posted On

2014-09-18