Mutagenetix > Incidental Mutation

Incidental Mutation 'R0153:BC024139'

22867

Institutional Source

Beutler Lab

Gene Symbol

BC024139

Ensembl Gene

ENSMUSG00000044361

Gene Name

cDNA sequence BC024139

Synonyms

6230424I18Rik

MMRRC Submission

038436-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0153 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

76003717-76010756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76005947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 418 (E418G)

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: E418G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361
AA Change: E418G

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: E418G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361
AA Change: E418G

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: E418G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361
AA Change: E418G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

97% (99/102)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,218,119 (GRCm39)	M406V	probably benign	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Adgre1	T	A	17: 57,750,939 (GRCm39)	S538T	possibly damaging	Het
Alms1	T	A	6: 85,618,363 (GRCm39)	I2803N	possibly damaging	Het
Amn1	G	T	6: 149,090,091 (GRCm39)		probably benign	Het
Arid1b	G	A	17: 5,393,207 (GRCm39)	A2246T	probably damaging	Het
Bok	A	G	1: 93,614,239 (GRCm39)	D24G	probably damaging	Het
Cabp2	T	C	19: 4,134,913 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,995,582 (GRCm39)		probably benign	Het
Ccdc178	T	C	18: 22,283,492 (GRCm39)	T13A	probably benign	Het
Ccdc42	G	T	11: 68,478,476 (GRCm39)	V33F	possibly damaging	Het
Clcn7	G	A	17: 25,368,176 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,548,176 (GRCm39)		probably benign	Het
Cr1l	A	T	1: 194,797,164 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,663,720 (GRCm39)	V726A	probably benign	Het
Csnk1g3	T	A	18: 54,051,861 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,281 (GRCm39)		probably benign	Het
Dgkh	A	C	14: 78,807,569 (GRCm39)	Y1149*	probably null	Het
Dipk2a	G	T	9: 94,406,533 (GRCm39)	D291E	probably benign	Het
Dnai1	A	G	4: 41,635,162 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,196,256 (GRCm39)	V497A	probably benign	Het
Efcab2	A	G	1: 178,302,451 (GRCm39)	E65G	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,842 (GRCm39)	D101V	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Fgfr4	A	G	13: 55,309,198 (GRCm39)		probably benign	Het
Garin5b	A	T	7: 4,773,286 (GRCm39)	L177Q	probably damaging	Het
Gm10720	A	C	9: 3,015,787 (GRCm39)	S44R	probably null	Het
Gm17535	T	A	9: 3,035,786 (GRCm39)	L218H	probably benign	Het
Gm6471	A	T	7: 142,385,368 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	T	17: 33,865,489 (GRCm39)	R724Q	probably damaging	Het
Homer1	C	T	13: 93,528,254 (GRCm39)	T117I	possibly damaging	Het
Hoxd4	A	T	2: 74,557,801 (GRCm39)	Q60L	probably damaging	Het
Ift172	T	C	5: 31,417,968 (GRCm39)	R1274G	probably benign	Het
Ino80d	A	G	1: 63,097,477 (GRCm39)	S806P	probably damaging	Het
Itga10	T	C	3: 96,561,016 (GRCm39)	V627A	probably benign	Het
Itgb2l	A	G	16: 96,238,569 (GRCm39)	Y77H	possibly damaging	Het
Kel	A	T	6: 41,678,877 (GRCm39)	H195Q	probably benign	Het
Klhdc7a	A	G	4: 139,694,582 (GRCm39)	S122P	possibly damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Lats1	T	A	10: 7,567,339 (GRCm39)	S37T	probably damaging	Het
Lrp1b	T	A	2: 41,013,031 (GRCm39)	H1858L	possibly damaging	Het
Matk	A	T	10: 81,098,676 (GRCm39)	T461S	probably benign	Het
Meikin	A	G	11: 54,300,468 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,214,029 (GRCm39)	Q2832R	possibly damaging	Het
Myo10	T	C	15: 25,781,324 (GRCm39)	F194L	possibly damaging	Het
Nbas	G	A	12: 13,323,877 (GRCm39)		probably benign	Het
Nme4	A	G	17: 26,312,831 (GRCm39)		probably null	Het
Or13p8	A	T	4: 118,583,530 (GRCm39)	I29F	possibly damaging	Het
Or4c112	T	A	2: 88,853,540 (GRCm39)	N269I	probably benign	Het
Or5w13	A	G	2: 87,523,948 (GRCm39)	S93P	probably benign	Het
Or7g32	T	A	9: 19,408,233 (GRCm39)	L63H	probably damaging	Het
Or8g34	T	C	9: 39,372,967 (GRCm39)	V80A	probably damaging	Het
Pacsin2	T	C	15: 83,261,862 (GRCm39)	Q473R	probably benign	Het
Patz1	A	G	11: 3,243,288 (GRCm39)	H427R	probably damaging	Het
Pkp3	A	G	7: 140,663,256 (GRCm39)	Y367C	probably damaging	Het
Prdm2	G	A	4: 142,860,338 (GRCm39)	P984L	possibly damaging	Het
Rev3l	T	A	10: 39,750,124 (GRCm39)	C3091*	probably null	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rpl5	T	C	5: 108,052,623 (GRCm39)	F140L	probably benign	Het
Sec24a	A	C	11: 51,591,653 (GRCm39)	I1014M	probably benign	Het
Serpinb11	A	G	1: 107,299,933 (GRCm39)	H93R	probably benign	Het
Shank2	C	A	7: 143,623,872 (GRCm39)	H286N	probably benign	Het
Sipa1l2	G	T	8: 126,148,637 (GRCm39)	Q1651K	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc30a5	A	T	13: 100,963,002 (GRCm39)	F75L	possibly damaging	Het
Slco1a1	G	T	6: 141,856,427 (GRCm39)		probably benign	Het
Smg5	C	T	3: 88,261,179 (GRCm39)		probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Taf8	A	T	17: 47,809,177 (GRCm39)		probably benign	Het
Tars3	A	G	7: 65,333,829 (GRCm39)	D617G	probably damaging	Het
Tbc1d5	A	T	17: 51,291,715 (GRCm39)		probably benign	Het
Tfcp2	C	G	15: 100,412,708 (GRCm39)	E315Q	probably damaging	Het
Tmf1	A	T	6: 97,147,345 (GRCm39)	S540R	probably damaging	Het
Tmprss4	T	C	9: 45,095,634 (GRCm39)	Q70R	probably benign	Het
Trip13	G	T	13: 74,068,183 (GRCm39)	A266E	possibly damaging	Het
Ttc24	T	A	3: 87,982,234 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,878,740 (GRCm39)	I49N	probably damaging	Het
Tut7	G	A	13: 59,930,150 (GRCm39)	R962*	probably null	Het
Ube2ql1	A	T	13: 69,886,711 (GRCm39)	M250K	possibly damaging	Het
Vmn1r87	A	T	7: 12,866,211 (GRCm39)	D25E	probably damaging	Het
Vmn2r84	A	G	10: 130,227,877 (GRCm39)	Y120H	probably benign	Het
Wdr6	G	A	9: 108,452,441 (GRCm39)	R481C	probably damaging	Het
Zdhhc17	A	T	10: 110,790,955 (GRCm39)	Y371*	probably null	Het
Zfp292	T	C	4: 34,811,185 (GRCm39)	N620D	probably benign	Het
Zfp932	T	A	5: 110,154,834 (GRCm39)	Y11N	probably benign	Het

Other mutations in BC024139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:BC024139	APN	15	76,009,300 (GRCm39)	missense	probably benign	0.06
IGL01684:BC024139	APN	15	76,008,885 (GRCm39)	missense	probably damaging	1.00
IGL01780:BC024139	APN	15	76,005,343 (GRCm39)	missense	probably benign	0.01
IGL03084:BC024139	APN	15	76,004,007 (GRCm39)	missense	probably benign	0.00
IGL03242:BC024139	APN	15	76,004,520 (GRCm39)	missense	probably benign	0.32
IGL03386:BC024139	APN	15	76,005,945 (GRCm39)	missense	probably benign	0.18
R0018:BC024139	UTSW	15	76,005,087 (GRCm39)	nonsense	probably null
R0018:BC024139	UTSW	15	76,005,087 (GRCm39)	nonsense	probably null
R0789:BC024139	UTSW	15	76,005,283 (GRCm39)	missense	possibly damaging	0.51
R1158:BC024139	UTSW	15	76,004,542 (GRCm39)	unclassified	probably benign
R1515:BC024139	UTSW	15	76,008,526 (GRCm39)	missense	possibly damaging	0.83
R1840:BC024139	UTSW	15	76,004,842 (GRCm39)	missense	probably benign
R1845:BC024139	UTSW	15	76,009,461 (GRCm39)	nonsense	probably null
R2159:BC024139	UTSW	15	76,005,688 (GRCm39)	missense	probably damaging	0.96
R2264:BC024139	UTSW	15	76,010,117 (GRCm39)	missense	probably damaging	1.00
R2680:BC024139	UTSW	15	76,005,939 (GRCm39)	missense	probably damaging	0.98
R2697:BC024139	UTSW	15	76,004,393 (GRCm39)	unclassified	probably benign
R4113:BC024139	UTSW	15	76,005,827 (GRCm39)	missense	probably benign	0.35
R4630:BC024139	UTSW	15	76,009,294 (GRCm39)	missense	probably benign	0.23
R4825:BC024139	UTSW	15	76,004,517 (GRCm39)	missense	possibly damaging	0.84
R4865:BC024139	UTSW	15	76,010,266 (GRCm39)	missense	possibly damaging	0.56
R5208:BC024139	UTSW	15	76,008,865 (GRCm39)	missense	probably benign	0.03
R5369:BC024139	UTSW	15	76,004,422 (GRCm39)	missense	probably benign	0.02
R5371:BC024139	UTSW	15	76,004,886 (GRCm39)	makesense	probably null
R5897:BC024139	UTSW	15	76,010,339 (GRCm39)	missense	possibly damaging	0.84
R6110:BC024139	UTSW	15	76,003,996 (GRCm39)	missense	probably benign
R6374:BC024139	UTSW	15	76,004,657 (GRCm39)	critical splice donor site	probably null
R6823:BC024139	UTSW	15	76,003,946 (GRCm39)	makesense	probably null
R6915:BC024139	UTSW	15	76,004,221 (GRCm39)	missense	probably benign
R7075:BC024139	UTSW	15	76,008,599 (GRCm39)	missense	probably benign	0.06
R7669:BC024139	UTSW	15	76,004,768 (GRCm39)	missense	possibly damaging	0.93
R8340:BC024139	UTSW	15	76,005,670 (GRCm39)	missense	probably benign	0.03
R8355:BC024139	UTSW	15	76,004,007 (GRCm39)	missense	probably benign	0.00
R8455:BC024139	UTSW	15	76,004,007 (GRCm39)	missense	probably benign	0.00
R8481:BC024139	UTSW	15	76,004,882 (GRCm39)	missense	probably damaging	0.99
R8507:BC024139	UTSW	15	76,004,333 (GRCm39)	missense	possibly damaging	0.53
R8804:BC024139	UTSW	15	76,008,284 (GRCm39)	missense	possibly damaging	0.92
R8876:BC024139	UTSW	15	76,010,320 (GRCm39)	missense	possibly damaging	0.86
R9213:BC024139	UTSW	15	76,009,422 (GRCm39)	missense	probably benign	0.00
R9542:BC024139	UTSW	15	76,009,715 (GRCm39)	missense	probably damaging	0.99
R9555:BC024139	UTSW	15	76,005,359 (GRCm39)	missense	possibly damaging	0.68
X0066:BC024139	UTSW	15	76,008,202 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGGCACAAGACCAACTTCTCTAC -3'
(R):5'- ACCTTGCTCTGAGCATCAGCAC -3'

Sequencing Primer
(F):5'- CCAACTTCTCTACAAGGTGGC -3'
(R):5'- CTGAGCATCAGCACAATGTGG -3'

Posted On

2013-04-16