Mutagenetix > Incidental Mutation

Incidental Mutation 'R5327:AA986860'

475493

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

042910-MU

Accession Numbers

Essential gene?

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

Stock #

R5327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130741003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 36 (S36G)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

probably damaging
Transcript: ENSMUST00000039323
AA Change: S36G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: S36G

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

0.0861

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (101/101)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,410,377 (GRCm38)	N280D	probably benign	Het
Abca2	T	A	2: 25,445,674 (GRCm38)	M2099K	probably damaging	Het
Abcb5	T	A	12: 118,911,543 (GRCm38)	E631D	probably benign	Het
Acss2	T	A	2: 155,573,229 (GRCm38)	L682Q	probably null	Het
Adamts14	G	A	10: 61,198,488 (GRCm38)	P1207L	probably benign	Het
Adora1	G	A	1: 134,203,010 (GRCm38)	R308*	probably null	Het
Arcn1	A	T	9: 44,757,147 (GRCm38)	V264E	probably benign	Het
B3galt1	G	A	2: 68,118,768 (GRCm38)	G276S	probably damaging	Het
Bms1	A	T	6: 118,405,218 (GRCm38)	M453K	possibly damaging	Het
Bnip3l	T	C	14: 66,987,731 (GRCm38)	Y218C	probably damaging	Het
Cacna2d2	A	G	9: 107,513,606 (GRCm38)	E379G	probably null	Het
Cacng6	G	A	7: 3,434,860 (GRCm38)	G235R	probably damaging	Het
Capn8	A	T	1: 182,628,604 (GRCm38)	T640S	probably benign	Het
Ccdc106	T	C	7: 5,060,160 (GRCm38)		probably benign	Het
Ccdc33	A	T	9: 58,086,577 (GRCm38)	N95K	probably benign	Het
Celsr3	T	A	9: 108,842,708 (GRCm38)		probably benign	Het
Cemip	A	T	7: 83,955,301 (GRCm38)	N844K	probably damaging	Het
Chrdl2	A	T	7: 100,028,741 (GRCm38)	T284S	probably damaging	Het
Ckm	A	G	7: 19,420,165 (GRCm38)	Y279C	probably damaging	Het
Clvs1	A	T	4: 9,424,261 (GRCm38)	I236F	probably damaging	Het
Col9a1	T	C	1: 24,195,539 (GRCm38)		probably null	Het
Csmd1	T	C	8: 17,216,712 (GRCm38)	E66G	possibly damaging	Het
Ctdsp2	A	G	10: 126,996,054 (GRCm38)	D26G	probably damaging	Het
Ctsll3	C	A	13: 60,798,907 (GRCm38)		probably null	Het
Cyp2d12	A	T	15: 82,555,222 (GRCm38)	M26L	probably benign	Het
Cyp8b1	C	T	9: 121,914,884 (GRCm38)	D461N	probably damaging	Het
Dbt	A	T	3: 116,528,571 (GRCm38)		probably benign	Het
Dnah7c	A	G	1: 46,665,568 (GRCm38)	D2247G	probably benign	Het
Dsg1c	A	G	18: 20,267,937 (GRCm38)	I166V	possibly damaging	Het
Duoxa1	T	A	2: 122,303,880 (GRCm38)	E252D	probably damaging	Het
Ezr	T	A	17: 6,753,049 (GRCm38)	K211M	probably damaging	Het
Faap100	T	A	11: 120,377,632 (GRCm38)	E105V	possibly damaging	Het
Fahd2a	T	C	2: 127,441,958 (GRCm38)	D54G	possibly damaging	Het
Fbxo9	A	T	9: 78,095,864 (GRCm38)		probably null	Het
Fndc1	A	G	17: 7,772,708 (GRCm38)	S719P	unknown	Het
Gas7	G	T	11: 67,662,090 (GRCm38)	G159C	probably damaging	Het
Gba2	T	C	4: 43,574,063 (GRCm38)	D130G	probably damaging	Het
Gli3	T	G	13: 15,548,507 (GRCm38)	S78A	probably damaging	Het
Gtpbp6	A	G	5: 110,106,904 (GRCm38)	F101S	probably damaging	Het
Gzme	G	A	14: 56,117,767 (GRCm38)	H236Y	probably benign	Het
Hira	T	C	16: 18,954,758 (GRCm38)	Y943H	probably damaging	Het
Hmbox1	G	A	14: 64,896,695 (GRCm38)	S152L	possibly damaging	Het
Ibtk	A	G	9: 85,737,466 (GRCm38)		probably null	Het
Jade1	T	C	3: 41,613,978 (GRCm38)	I827T	possibly damaging	Het
Jakmip3	A	T	7: 139,025,435 (GRCm38)	E389D	possibly damaging	Het
Klhdc8b	A	T	9: 108,449,042 (GRCm38)		probably benign	Het
Lama2	T	C	10: 27,138,946 (GRCm38)	T1589A	probably benign	Het
Lbx2	A	C	6: 83,087,803 (GRCm38)	K107T	probably damaging	Het
Ldha	A	G	7: 46,854,098 (GRCm38)	M259V	probably benign	Het
Lrrtm4	A	G	6: 80,022,637 (GRCm38)	K344R	probably damaging	Het
Ltb	A	T	17: 35,195,959 (GRCm38)	E245V	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,350,991 (GRCm38)		probably null	Het
Map3k13	T	A	16: 21,921,647 (GRCm38)	S575T	possibly damaging	Het
Mcpt2	A	T	14: 56,043,376 (GRCm38)	I74F	probably damaging	Het
Mpeg1	T	A	19: 12,461,649 (GRCm38)	V157D	probably damaging	Het
Mrpl21	A	T	19: 3,287,009 (GRCm38)		probably null	Het
Nagpa	T	C	16: 5,200,013 (GRCm38)	T99A	possibly damaging	Het
Nphs1	A	T	7: 30,463,825 (GRCm38)	I469F	probably benign	Het
Nyap2	A	G	1: 81,192,041 (GRCm38)	E171G	possibly damaging	Het
Oas1e	A	G	5: 120,791,941 (GRCm38)	Y171H	probably damaging	Het
Olfr1129	T	A	2: 87,575,699 (GRCm38)	V205D	probably damaging	Het
Olfr1392	T	C	11: 49,293,666 (GRCm38)	L115P	probably damaging	Het
Olfr196	T	C	16: 59,167,620 (GRCm38)	I174M	possibly damaging	Het
Olfr205	T	C	16: 59,329,098 (GRCm38)	K137R	probably benign	Het
Otud7b	C	A	3: 96,155,738 (GRCm38)	Q765K	probably benign	Het
Pdzd7	A	G	19: 45,028,777 (GRCm38)	V851A	probably benign	Het
Pi4ka	T	G	16: 17,325,413 (GRCm38)	K794T	probably damaging	Het
Pkhd1l1	T	A	15: 44,546,862 (GRCm38)	N2588K	probably damaging	Het
Pla2g6	A	T	15: 79,302,637 (GRCm38)	M471K	probably benign	Het
Plagl2	T	C	2: 153,235,839 (GRCm38)	H74R	possibly damaging	Het
Prf1	T	A	10: 61,300,258 (GRCm38)	N104K	probably benign	Het
Ptprf	A	T	4: 118,236,389 (GRCm38)	I358N	probably damaging	Het
Rcsd1	A	G	1: 165,655,303 (GRCm38)		probably null	Het
Rev1	G	A	1: 38,108,451 (GRCm38)	R3*	probably null	Het
Rp1	T	C	1: 4,349,360 (GRCm38)		probably null	Het
Rrp12	G	A	19: 41,892,596 (GRCm38)	T132I	probably damaging	Het
Sema3a	T	C	5: 13,599,389 (GRCm38)	V702A	probably benign	Het
Serpinb12	A	G	1: 106,956,444 (GRCm38)	N307D	probably damaging	Het
Slc35d1	A	G	4: 103,213,186 (GRCm38)	L103P	probably damaging	Het
Smyd4	T	C	11: 75,390,939 (GRCm38)	C413R	probably damaging	Het
Stab1	G	A	14: 31,161,836 (GRCm38)	Q255*	probably null	Het
Synpo	T	A	18: 60,603,846 (GRCm38)	I343F	possibly damaging	Het
Tcirg1	A	G	19: 3,902,342 (GRCm38)		probably null	Het
Tmem132c	A	G	5: 127,563,752 (GRCm38)	T996A	possibly damaging	Het
Trim10	A	G	17: 36,870,189 (GRCm38)	E104G	probably damaging	Het
Trpc1	T	C	9: 95,721,471 (GRCm38)		probably null	Het
Tspo2	A	T	17: 48,449,859 (GRCm38)		probably benign	Het
Ugt2a3	A	T	5: 87,331,315 (GRCm38)	I258N	probably damaging	Het
Usp34	T	C	11: 23,468,846 (GRCm38)	L2998P	probably damaging	Het
Vmn1r45	A	C	6: 89,933,141 (GRCm38)	D162E	possibly damaging	Het
Vmn2r117	A	T	17: 23,477,874 (GRCm38)	Y186*	probably null	Het
Vmn2r67	A	G	7: 85,136,490 (GRCm38)	F769S	probably damaging	Het
Zbtb17	A	G	4: 141,465,631 (GRCm38)	I514V	probably benign	Het
Zfp329	A	C	7: 12,811,494 (GRCm38)	D34E	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
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
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
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'- ACAGAAAAGTGCCCTTGCC -3'
(R):5'- TGACAGACTCTTACCCTGGG -3'

Sequencing Primer
(F):5'- CTTCCGAACTGAGTCCTGGTG -3'
(R):5'- CTTACCCTGGGGAGCCTGTTG -3'

Posted On

2017-05-02