Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:AA986860'

505660

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

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

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130743043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 334 (T334K)

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

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

AlphaFold

Q8BI29

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039323
AA Change: T334K

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: T334K

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,158,942 (GRCm38)	D871G	probably benign	Het
A4galt	G	T	15: 83,227,819 (GRCm38)	H254Q	probably damaging	Het
Abca13	T	C	11: 9,403,874 (GRCm38)	I3732T	probably benign	Het
Abcf1	C	T	17: 35,961,064 (GRCm38)	D353N	probably damaging	Het
Adssl1	A	G	12: 112,628,356 (GRCm38)	H83R	probably damaging	Het
Amer2	C	A	14: 60,378,872 (GRCm38)	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,654,146 (GRCm38)	T2300A	probably benign	Het
Ano5	G	A	7: 51,566,131 (GRCm38)		probably null	Het
Apob	G	A	12: 8,001,801 (GRCm38)	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,380,960 (GRCm38)	N484Y	probably damaging	Het
C6	A	G	15: 4,763,541 (GRCm38)	D376G	probably damaging	Het
Caml	T	C	13: 55,625,173 (GRCm38)		probably null	Het
Capn12	T	C	7: 28,888,652 (GRCm38)	L473S	probably benign	Het
Cdk6	G	A	5: 3,344,553 (GRCm38)		probably null	Het
Cers5	A	T	15: 99,745,924 (GRCm38)	C153S	probably benign	Het
Cfap206	T	C	4: 34,692,530 (GRCm38)	M499V	probably benign	Het
Chd6	A	G	2: 160,950,048 (GRCm38)	M2463T	probably damaging	Het
Chn1	T	C	2: 73,707,006 (GRCm38)	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,928,042 (GRCm38)	V100A	probably benign	Het
Col7a1	G	C	9: 108,981,062 (GRCm38)		probably benign	Het
Csmd1	A	G	8: 16,196,235 (GRCm38)	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,731,751 (GRCm38)	A524V	probably benign	Het
Dennd5a	A	T	7: 109,898,682 (GRCm38)	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,225,888 (GRCm38)	T2181A	probably benign	Het
Dnaic1	T	C	4: 41,605,775 (GRCm38)	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078 (GRCm38)	C1518R	probably damaging	Het
Dysf	T	C	6: 84,066,999 (GRCm38)	V273A	probably damaging	Het
Eif1	C	T	11: 100,320,397 (GRCm38)		probably benign	Het
Eml3	T	C	19: 8,930,949 (GRCm38)	I58T	probably benign	Het
Fam171b	T	A	2: 83,879,208 (GRCm38)	I408N	probably damaging	Het
Fchsd2	A	G	7: 101,253,540 (GRCm38)	E351G	probably benign	Het
Focad	G	A	4: 88,407,140 (GRCm38)	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,022,486 (GRCm38)	V252I	probably benign	Het
Fryl	A	G	5: 73,065,481 (GRCm38)	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,915,908 (GRCm38)	R152H	probably damaging	Het
Gm14410	C	T	2: 177,193,724 (GRCm38)	G249E	probably damaging	Het
Gm3854	T	C	7: 6,353,946 (GRCm38)	C253R	probably damaging	Het
Gm6685	A	T	11: 28,339,706 (GRCm38)	S37T	possibly damaging	Het
Greb1	G	A	12: 16,716,675 (GRCm38)	P374L	probably damaging	Het
Hdac4	A	T	1: 92,012,838 (GRCm38)		probably null	Het
Hecw1	A	T	13: 14,234,425 (GRCm38)	L1099*	probably null	Het
Hivep1	T	C	13: 42,157,490 (GRCm38)	S1069P	probably benign	Het
Itgad	T	C	7: 128,185,787 (GRCm38)	I288T	possibly damaging	Het
Kif9	A	G	9: 110,488,544 (GRCm38)	M96V	possibly damaging	Het
Kncn	T	A	4: 115,884,790 (GRCm38)	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,758,556 (GRCm38)	G384D	probably damaging	Het
Ltb4r2	T	C	14: 55,762,651 (GRCm38)	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,862,786 (GRCm38)	I326L	probably benign	Het
Mylip	C	T	13: 45,408,481 (GRCm38)	T253I	probably damaging	Het
Necap1	T	A	6: 122,880,652 (GRCm38)		probably null	Het
Nedd4	C	T	9: 72,726,438 (GRCm38)	P409S	probably damaging	Het
Npat	A	T	9: 53,545,238 (GRCm38)	E36D	probably damaging	Het
Ovch2	C	T	7: 107,785,441 (GRCm38)	V490M	probably damaging	Het
Pax9	T	C	12: 56,709,695 (GRCm38)	S273P	probably benign	Het
Plce1	A	G	19: 38,745,845 (GRCm38)	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,849,317 (GRCm38)	G336*	probably null	Het
Prdm1	A	G	10: 44,446,786 (GRCm38)		probably null	Het
Psme4	T	C	11: 30,853,245 (GRCm38)	I29T	possibly damaging	Het
Ptprd	A	T	4: 76,066,291 (GRCm38)	D780E	probably benign	Het
Retsat	T	C	6: 72,604,935 (GRCm38)	M294T	probably benign	Het
Robo2	A	T	16: 73,967,784 (GRCm38)	V652D	probably damaging	Het
Rptn	C	G	3: 93,398,130 (GRCm38)	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,082,760 (GRCm38)	T66K	probably benign	Het
Setd1b	A	T	5: 123,158,398 (GRCm38)		probably benign	Het
Slc7a10	G	T	7: 35,186,587 (GRCm38)	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,539,588 (GRCm38)	I320F	probably damaging	Het
Syne1	G	T	10: 5,349,071 (GRCm38)	A1005E	probably damaging	Het
Syngap1	C	A	17: 26,962,957 (GRCm38)	S975*	probably null	Het
Tinagl1	C	T	4: 130,172,932 (GRCm38)	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,636,370 (GRCm38)	R557H	probably damaging	Het
Tmed2	T	A	5: 124,546,992 (GRCm38)	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,243,993 (GRCm38)	T451A	probably benign	Het
Tmem141	T	C	2: 25,621,681 (GRCm38)		probably null	Het
Tmem184a	C	A	5: 139,813,072 (GRCm38)	V41L	probably benign	Het
Tmem39b	C	T	4: 129,686,791 (GRCm38)	V303I	possibly damaging	Het
Tsn	T	C	1: 118,305,209 (GRCm38)	I122V	probably benign	Het
Ttc41	G	T	10: 86,776,663 (GRCm38)	V1267L	probably benign	Het
Uggt1	A	T	1: 36,163,228 (GRCm38)	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,775,793 (GRCm38)	I244N	probably benign	Het
Vil1	A	G	1: 74,432,339 (GRCm38)	S760G	probably benign	Het
Wasf1	T	A	10: 40,937,745 (GRCm38)	V541E	unknown	Het
Zc3h13	G	T	14: 75,343,736 (GRCm38)	S1721I	probably benign	Het
Zfp180	G	T	7: 24,105,105 (GRCm38)	K316N	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708 (GRCm38)		probably benign	Het
Zfp759	A	G	13: 67,140,460 (GRCm38)	T692A	probably benign	Het
Zfyve26	A	G	12: 79,282,984 (GRCm38)	V476A	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
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
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'- CCACGAAAGCTGAAGAACTTTC -3'
(R):5'- TAGGAGCGACAGCCTTCTTC -3'

Sequencing Primer
(F):5'- GAAGAACTTTCTCTACCTTCAGGGG -3'
(R):5'- ACTTTCCCTGCCGCAGAAG -3'

Posted On

2018-02-28