Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:BC024139'

671950

Institutional Source

Beutler Lab

Gene Symbol

BC024139

Ensembl Gene

ENSMUSG00000044361

Gene Name

cDNA sequence BC024139

Synonyms

6230424I18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76119517-76126596 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 76124084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 376 (T376P)

Ref Sequence

ENSEMBL: ENSMUSP00000053305 (fasta)

Gene Model

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

AlphaFold

Q8BVJ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054022
AA Change: T376P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: T376P

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 damaging
Transcript: ENSMUST00000089654
AA Change: T376P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: T376P

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

possibly damaging
Transcript: ENSMUST00000146157
AA Change: T376P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: T376P

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

probably benign
Transcript: ENSMUST00000226781

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656		probably benign	Het
Adamts1	A	G	16: 85,802,412	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912		probably benign	Het
Adgrb2	T	A	4: 130,005,419	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,547,706	T600A	probably benign	Het
B4galt3	C	T	1: 171,276,374	H395Y	probably benign	Het
Bin3	A	G	14: 70,123,847	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624	T401A	probably benign	Het
Cdhr5	T	C	7: 141,269,407	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049		probably benign	Het
Ddx60	T	A	8: 61,958,606	D497E	probably benign	Het
Dnah2	T	C	11: 69,465,685	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557		probably benign	Het
Fer1l4	C	A	2: 156,051,994	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326		probably benign	Het
Fgd5	C	T	6: 91,987,526	R247C	probably benign	Het
Gm14443	G	A	2: 175,169,859	H265Y	probably damaging	Het
Gm8251	T	C	1: 44,056,649	N1763S	probably benign	Het
Gykl1	A	G	18: 52,694,536	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381	N3714S	probably benign	Het
Hrasls	T	A	16: 29,220,453	V95E	probably benign	Het
Ighv1-36	G	T	12: 114,879,961	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432		probably benign	Het
Nup153	A	G	13: 46,687,159	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443	E839*	probably null	Het
Pfas	T	C	11: 68,991,082	N30D		Het
Pitpnc1	T	A	11: 107,212,605	N223Y	probably damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470	T548A	unknown	Het
Psg20	A	T	7: 18,682,659	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804		probably benign	Het
Slc17a4	G	T	13: 23,903,262	T264K	probably benign	Het
Slfn8	T	A	11: 83,016,813	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,792,127	S231F	probably benign	Het
Spag17	T	A	3: 99,967,190	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846	C80*	probably null	Het
Washc4	T	C	10: 83,572,151	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400	D175G	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
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
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'- CTAGTTGTCCAGTGTCCCCATG -3'
(R):5'- ACTTGGGACGTTTCTGCCAG -3'

Sequencing Primer
(F):5'- CAGTGTCCCCATGGTCAC -3'
(R):5'- GGCCCGGGGATAGGACTAAG -3'

Posted On

2021-04-30