Mutagenetix > Incidental Mutation

Incidental Mutation 'R4113:BC024139'

314523

Institutional Source

Beutler Lab

Gene Symbol

BC024139

Ensembl Gene

ENSMUSG00000044361

Gene Name

cDNA sequence BC024139

Synonyms

6230424I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4113 (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 76121627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 458 (M458T)

Ref Sequence

ENSEMBL: ENSMUSP00000117783 (fasta)

Gene Model

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

AlphaFold

Q8BVJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000054022
AA Change: M458T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: M458T

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

probably benign
Transcript: ENSMUST00000089654
AA Change: M458T

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: M458T

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

probably benign
Transcript: ENSMUST00000146157
AA Change: M458T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: M458T

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: 99.2%
3x: 98.6%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Catsper3	A	G	13: 55,786,370	K35E	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnah12	T	C	14: 26,693,567	L41P	probably damaging	Het
Dnah17	T	C	11: 118,112,594	K514R	possibly damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Eya4	G	T	10: 23,155,951	S235Y	probably damaging	Het
Fam208a	C	T	14: 27,459,961	R483*	probably null	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gdf3	A	G	6: 122,607,057	I117T	probably damaging	Het
Gm5611	T	A	9: 17,030,693		noncoding transcript	Het
Gtf3c4	G	A	2: 28,827,555	T771I	probably damaging	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,561,418	Y234F	probably damaging	Het
Irak1bp1	T	C	9: 82,846,675	S220P	probably benign	Het
Lama1	G	A	17: 67,764,703	V862I	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Olfr1271	A	T	2: 90,266,340	L30H	probably damaging	Het
Olfr304	G	A	7: 86,386,525	T45M	possibly damaging	Het
Pcdh8	T	C	14: 79,767,513	D927G	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprm	T	C	17: 66,725,813	D1015G	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Riox2	C	T	16: 59,491,894	L465F	probably benign	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Stab1	C	T	14: 31,168,479	R5Q	probably damaging	Het
Stmn3	T	C	2: 181,307,296	K135E	possibly damaging	Het
Synj2	G	A	17: 6,007,965	G243S	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tshz2	C	A	2: 169,885,530	P213Q	probably benign	Het
Tssk4	A	G	14: 55,650,373	T9A	probably benign	Het
Ube4a	T	A	9: 44,948,949	I272F	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Vmn2r87	T	C	10: 130,479,822	D125G	probably benign	Het
Yap1	A	T	9: 7,938,431	*358K	probably null	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	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
R1515:BC024139	UTSW	15	76124326	missense	possibly damaging	0.83
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
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'- CACAGTTACAGTACAGGCCAG -3'
(R):5'- TTTCCCGCTCTGAAAACCG -3'

Sequencing Primer
(F):5'- TTGATCCCCAAGGGTTCCG -3'
(R):5'- GATAGTACATCAGGCTACTCTGACG -3'

Posted On

2015-05-14