Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:BC024139'

168245

Institutional Source

Beutler Lab

Gene Symbol

BC024139

Ensembl Gene

ENSMUSG00000044361

Gene Name

cDNA sequence BC024139

Synonyms

6230424I18Rik

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76119517-76126596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76124326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 350 (V350A)

Ref Sequence

ENSEMBL: ENSMUSP00000087082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054022] [ENSMUST00000089654] [ENSMUST00000146157] [ENSMUST00000226781]

AlphaFold

Q8BVJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054022
AA Change: V350A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: V350A

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC
Pfam:GAS2	672	701	3.9e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089654
AA Change: V350A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: V350A

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC
Pfam:GAS2	671	703	3.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126892

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146157
AA Change: V350A

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: V350A

Domain	Start	End	E-Value	Type
low complexity region	61	79	N/A	INTRINSIC
SPEC	91	177	8.82e-1	SMART
SPEC	184	283	2.74e-2	SMART
coiled coil region	314	337	N/A	INTRINSIC
low complexity region	469	485	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226663

Predicted Effect

probably benign
Transcript: ENSMUST00000226781

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Flii	T	C	11: 60,721,606		probably null	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		probably benign	Het

Other mutations in BC024139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:BC024139	APN	15	76125100	missense	probably benign	0.06
IGL01684:BC024139	APN	15	76124685	missense	probably damaging	1.00
IGL01780:BC024139	APN	15	76121143	missense	probably benign	0.01
IGL03084:BC024139	APN	15	76119807	missense	probably benign	0.00
IGL03242:BC024139	APN	15	76120320	missense	probably benign	0.32
IGL03386:BC024139	APN	15	76121745	missense	probably benign	0.18
R0018:BC024139	UTSW	15	76120887	nonsense	probably null
R0018:BC024139	UTSW	15	76120887	nonsense	probably null
R0153:BC024139	UTSW	15	76121747	missense	probably damaging	0.96
R0789:BC024139	UTSW	15	76121083	missense	possibly damaging	0.51
R1158:BC024139	UTSW	15	76120342	unclassified	probably benign
R1840:BC024139	UTSW	15	76120642	missense	probably benign
R1845:BC024139	UTSW	15	76125261	nonsense	probably null
R2159:BC024139	UTSW	15	76121488	missense	probably damaging	0.96
R2264:BC024139	UTSW	15	76125917	missense	probably damaging	1.00
R2680:BC024139	UTSW	15	76121739	missense	probably damaging	0.98
R2697:BC024139	UTSW	15	76120193	unclassified	probably benign
R4113:BC024139	UTSW	15	76121627	missense	probably benign	0.35
R4630:BC024139	UTSW	15	76125094	missense	probably benign	0.23
R4825:BC024139	UTSW	15	76120317	missense	possibly damaging	0.84
R4865:BC024139	UTSW	15	76126066	missense	possibly damaging	0.56
R5208:BC024139	UTSW	15	76124665	missense	probably benign	0.03
R5369:BC024139	UTSW	15	76120222	missense	probably benign	0.02
R5371:BC024139	UTSW	15	76120686	makesense	probably null
R5897:BC024139	UTSW	15	76126139	missense	possibly damaging	0.84
R6110:BC024139	UTSW	15	76119796	missense	probably benign
R6374:BC024139	UTSW	15	76120457	critical splice donor site	probably null
R6823:BC024139	UTSW	15	76119746	makesense	probably null
R6915:BC024139	UTSW	15	76120021	missense	probably benign
R7075:BC024139	UTSW	15	76124399	missense	probably benign	0.06
R7669:BC024139	UTSW	15	76120568	missense	possibly damaging	0.93
R8340:BC024139	UTSW	15	76121470	missense	probably benign	0.03
R8355:BC024139	UTSW	15	76119807	missense	probably benign	0.00
R8455:BC024139	UTSW	15	76119807	missense	probably benign	0.00
R8481:BC024139	UTSW	15	76120682	missense	probably damaging	0.99
R8507:BC024139	UTSW	15	76120133	missense	possibly damaging	0.53
R8804:BC024139	UTSW	15	76124084	missense	possibly damaging	0.92
R8876:BC024139	UTSW	15	76126120	missense	possibly damaging	0.86
R9213:BC024139	UTSW	15	76125222	missense	probably benign	0.00
R9542:BC024139	UTSW	15	76125515	missense	probably damaging	0.99
R9555:BC024139	UTSW	15	76121159	missense	possibly damaging	0.68
X0066:BC024139	UTSW	15	76124002	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTCTAACCAGTGCCCTTCCAG -3'
(R):5'- ACCATACCAGGGAGCTAGAGTTGC -3'

Sequencing Primer
(F):5'- TTCGTATCGGCCTGAAGC -3'
(R):5'- CTAGAGTTGCTGGGAGTACATAG -3'

Posted On

2014-04-13