Mutagenetix > Incidental Mutation

Incidental Mutation 'R1993:AY358078'

223988

Institutional Source

Beutler Lab

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

MMRRC Submission

040004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51800046-51826359 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51826062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 388 (D388E)

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053821]

AlphaFold

Q6UY53

Predicted Effect

probably damaging
Transcript: ENSMUST00000053821
AA Change: D388E

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

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: D388E

Domain	Start	End	E-Value	Type
Pfam:Takusan	91	171	5.5e-26	PFAM
coiled coil region	187	220	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167221

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,821,322 (GRCm38)	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,526,282 (GRCm38)	N1047S	probably benign	Het
Abcc8	G	T	7: 46,117,423 (GRCm38)		probably null	Het
Akap9	T	A	5: 4,038,520 (GRCm38)		probably null	Het
Alox5	T	A	6: 116,415,463 (GRCm38)	I366F	probably damaging	Het
Amn	A	G	12: 111,276,092 (GRCm38)	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,165,774 (GRCm38)	M1K	probably null	Het
Asic1	G	T	15: 99,671,884 (GRCm38)	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,345,977 (GRCm38)	N235S	probably benign	Het
Bod1l	A	G	5: 41,817,336 (GRCm38)	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,477,817 (GRCm38)	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,975 (GRCm38)	I62T	possibly damaging	Het
Cars2	A	G	8: 11,514,515 (GRCm38)	V75A	probably benign	Het
Catsperb	T	A	12: 101,602,767 (GRCm38)	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,409,339 (GRCm38)	C86*	probably null	Het
Cdh5	G	T	8: 104,137,815 (GRCm38)	L469F	probably damaging	Het
Clrn3	A	T	7: 135,514,119 (GRCm38)	D167E	probably benign	Het
Csmd1	A	T	8: 16,346,684 (GRCm38)	C411S	probably damaging	Het
Dchs1	A	T	7: 105,762,548 (GRCm38)	S1454T	probably benign	Het
Ddx20	G	A	3: 105,679,344 (GRCm38)	Q562*	probably null	Het
Dgkg	T	G	16: 22,600,594 (GRCm38)	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,703,490 (GRCm38)		probably null	Het
Dpp6	A	T	5: 27,399,006 (GRCm38)	I145L	probably benign	Het
Efna2	A	T	10: 80,186,877 (GRCm38)	Y85F	possibly damaging	Het
Eif3a	C	T	19: 60,781,516 (GRCm38)	V127I	probably benign	Het
Exph5	A	T	9: 53,373,635 (GRCm38)	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,320,884 (GRCm38)	T112A	possibly damaging	Het
Fcgr1	A	T	3: 96,285,868 (GRCm38)	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,165,902 (GRCm38)	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,419,400 (GRCm38)	M1172T	probably benign	Het
Fryl	G	T	5: 73,108,493 (GRCm38)	T495K	probably damaging	Het
Garin5b	A	T	7: 4,758,018 (GRCm38)	V565E	probably damaging	Het
Gm5134	A	T	10: 75,966,393 (GRCm38)	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,279,444 (GRCm38)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357 (GRCm38)	L10F	probably benign	Het
Grm7	T	C	6: 111,207,808 (GRCm38)	Y367H	probably benign	Het
H1f9	T	A	11: 94,968,032 (GRCm38)	V51E	probably damaging	Het
Hivep1	G	A	13: 42,157,493 (GRCm38)	A1070T	probably benign	Het
Il33	A	G	19: 29,956,904 (GRCm38)	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,406,303 (GRCm38)	S408G	probably null	Het
Kntc1	A	G	5: 123,810,811 (GRCm38)		probably null	Het
Kntc1	G	A	5: 123,759,099 (GRCm38)		probably null	Het
Ltbp2	T	G	12: 84,808,446 (GRCm38)		probably null	Het
Mapk8ip3	G	T	17: 24,914,588 (GRCm38)	L83I	probably damaging	Het
Meltf	C	A	16: 31,892,622 (GRCm38)	Y554*	probably null	Het
Mov10	A	C	3: 104,799,419 (GRCm38)	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,590,159 (GRCm38)	L18R	probably damaging	Het
Naip2	T	C	13: 100,162,007 (GRCm38)	N507S	probably benign	Het
Nodal	A	G	10: 61,418,334 (GRCm38)	Q12R	probably benign	Het
Npy6r	T	C	18: 44,276,508 (GRCm38)	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,260,411 (GRCm38)	K272R	possibly damaging	Het
Obox2	G	T	7: 15,397,249 (GRCm38)	K93N	probably benign	Het
Or10j27	C	T	1: 173,130,851 (GRCm38)	R122H	possibly damaging	Het
Or51a6	G	T	7: 102,954,746 (GRCm38)	P285Q	probably damaging	Het
Or5b112	A	G	19: 13,341,814 (GRCm38)	T19A	possibly damaging	Het
Or5w13	C	T	2: 87,693,433 (GRCm38)	V150M	probably benign	Het
Pcdh12	T	A	18: 38,282,143 (GRCm38)	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,687,619 (GRCm38)	D112G	probably benign	Het
Pms1	A	G	1: 53,195,015 (GRCm38)	S781P	probably benign	Het
Prtg	A	G	9: 72,844,896 (GRCm38)	D188G	probably benign	Het
Psg21	A	T	7: 18,654,770 (GRCm38)	N132K	probably benign	Het
Psip1	A	G	4: 83,482,532 (GRCm38)	V25A	probably damaging	Het
Psmd13	T	A	7: 140,898,194 (GRCm38)	I319N	probably damaging	Het
Ptges2	A	G	2: 32,400,092 (GRCm38)	T173A	probably benign	Het
Ptprm	G	A	17: 66,747,160 (GRCm38)	R975W	probably damaging	Het
Rdh1	A	G	10: 127,765,345 (GRCm38)	D254G	probably benign	Het
Rnf138	T	G	18: 21,024,483 (GRCm38)	N212K	probably damaging	Het
Serpine2	A	G	1: 79,821,442 (GRCm38)	S32P	probably damaging	Het
Serpini1	G	T	3: 75,614,664 (GRCm38)	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,179,177 (GRCm38)	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 63,926,833 (GRCm38)	H988Q	probably benign	Het
Sin3a	T	C	9: 57,101,199 (GRCm38)	F468L	probably damaging	Het
Slamf6	A	T	1: 171,934,209 (GRCm38)	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,117,124 (GRCm38)	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181 (GRCm38)	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,434,219 (GRCm38)	H428L	probably damaging	Het
Speer2	A	G	16: 69,858,077 (GRCm38)	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Spsb2	T	C	6: 124,809,366 (GRCm38)		probably null	Het
Stam2	A	T	2: 52,703,156 (GRCm38)	Y341*	probably null	Het
Sv2b	G	A	7: 75,206,341 (GRCm38)	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170 (GRCm38)		probably null	Het
Syt15	A	T	14: 34,223,012 (GRCm38)	Q172L	probably benign	Het
T	G	A	17: 8,441,802 (GRCm38)	S415N	probably benign	Het
Tep1	A	G	14: 50,824,184 (GRCm38)	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,536,755 (GRCm38)	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,415,126 (GRCm38)	R377*	probably null	Het
Tirap	A	G	9: 35,191,016 (GRCm38)		probably null	Het
Tm4sf20	T	C	1: 82,760,217 (GRCm38)	T118A	probably benign	Het
Trank1	A	T	9: 111,378,832 (GRCm38)	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,947,989 (GRCm38)	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,371,796 (GRCm38)	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,716,526 (GRCm38)	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,803,255 (GRCm38)	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,713,263 (GRCm38)	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,583,876 (GRCm38)	I271V	probably damaging	Het
Vps13a	A	T	19: 16,722,458 (GRCm38)	I740K	probably benign	Het
Vps13c	A	G	9: 67,975,856 (GRCm38)	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,892,362 (GRCm38)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,365,956 (GRCm38)	T315S	possibly damaging	Het
Zfp616	A	G	11: 74,084,969 (GRCm38)	H688R	probably benign	Het
Zfp763	A	T	17: 33,018,439 (GRCm38)	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,172,907 (GRCm38)	S650N	probably benign	Het
Zfp977	A	T	7: 42,579,985 (GRCm38)	M372K	probably benign	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:AY358078	APN	14	51,805,709 (GRCm38)	splice site	probably benign
IGL02053:AY358078	APN	14	51,805,552 (GRCm38)	missense	unknown
IGL02057:AY358078	APN	14	51,820,305 (GRCm38)	missense	unknown
IGL02498:AY358078	APN	14	51,803,487 (GRCm38)	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	51,805,698 (GRCm38)	missense	unknown
R0140:AY358078	UTSW	14	51,825,942 (GRCm38)	missense	probably benign	0.12
R0466:AY358078	UTSW	14	51,805,632 (GRCm38)	missense	unknown
R0496:AY358078	UTSW	14	51,803,532 (GRCm38)	missense	unknown
R1546:AY358078	UTSW	14	51,820,419 (GRCm38)	splice site	probably null
R1793:AY358078	UTSW	14	51,804,594 (GRCm38)	missense	unknown
R1867:AY358078	UTSW	14	51,800,047 (GRCm38)	start codon destroyed	probably null	0.01
R1994:AY358078	UTSW	14	51,826,062 (GRCm38)	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	51,826,062 (GRCm38)	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	51,825,988 (GRCm38)	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	51,804,690 (GRCm38)	missense	unknown
R2441:AY358078	UTSW	14	51,800,089 (GRCm38)	missense	probably benign	0.00
R3851:AY358078	UTSW	14	51,805,553 (GRCm38)	missense	unknown
R3852:AY358078	UTSW	14	51,805,553 (GRCm38)	missense	unknown
R4600:AY358078	UTSW	14	51,826,075 (GRCm38)	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	51,826,075 (GRCm38)	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	51,826,075 (GRCm38)	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	51,826,075 (GRCm38)	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	51,802,651 (GRCm38)	missense	unknown
R5096:AY358078	UTSW	14	51,826,118 (GRCm38)	missense	probably benign	0.19
R5143:AY358078	UTSW	14	51,802,549 (GRCm38)	missense	unknown
R5609:AY358078	UTSW	14	51,804,608 (GRCm38)	missense	unknown
R5651:AY358078	UTSW	14	51,822,160 (GRCm38)	missense	unknown
R6345:AY358078	UTSW	14	51,826,292 (GRCm38)	missense	probably damaging	1.00
R6988:AY358078	UTSW	14	51,826,187 (GRCm38)	missense	probably damaging	0.99
R7340:AY358078	UTSW	14	51,826,259 (GRCm38)	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	51,822,178 (GRCm38)	missense	unknown
R8684:AY358078	UTSW	14	51,822,140 (GRCm38)	nonsense	probably null
RF002:AY358078	UTSW	14	51,805,593 (GRCm38)	nonsense	probably null
RF017:AY358078	UTSW	14	51,805,593 (GRCm38)	nonsense	probably null
RF025:AY358078	UTSW	14	51,805,589 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCGGACCAACTGAAGAACC -3'
(R):5'- CTAGTTACAGGCAGAGCAGG -3'

Sequencing Primer
(F):5'- TCGGACCAACTGAAGAACCTAAAAAC -3'
(R):5'- TTCTCAATAGAAGGAGAGGCTGG -3'

Posted On

2014-08-25