Mutagenetix > Incidental Mutations

Incidental Mutation 'R0318:BC005561'

25497

Institutional Source

Beutler Lab

Gene Symbol

BC005561

Ensembl Gene

ENSMUSG00000079065

Gene Name

cDNA sequence BC005561

Synonyms

MMRRC Submission

038528-MU

Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R0318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104508352-104522611 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104517753 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 47 (F47S)

Ref Sequence

ENSEMBL: ENSMUSP00000130629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096452]

Predicted Effect

probably benign
Transcript: ENSMUST00000096452
AA Change: F47S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F47S

Domain	Start	End	E-Value	Type
Pfam:THOC2_N	10	424	3.5e-65	PFAM
Pfam:THOC2_N	415	566	5.8e-32	PFAM
Pfam:Thoc2	568	643	8.3e-40	PFAM
low complexity region	729	747	N/A	INTRINSIC
Pfam:Tho2	873	1173	1.1e-105	PFAM
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1266	1283	N/A	INTRINSIC
coiled coil region	1310	1335	N/A	INTRINSIC
low complexity region	1355	1366	N/A	INTRINSIC
low complexity region	1459	1482	N/A	INTRINSIC
low complexity region	1524	1543	N/A	INTRINSIC
low complexity region	1561	1569	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,974	L79Q	probably damaging	Het
Add1	T	C	5: 34,625,340	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,534,072	T73K	probably benign	Het
Blk	A	G	14: 63,374,197	Y430H	probably damaging	Het
C3	C	T	17: 57,224,709	V272M	probably damaging	Het
Cerk	C	T	15: 86,151,565	A254T	possibly damaging	Het
Ces2a	G	A	8: 104,740,824	A494T	probably damaging	Het
Cfap46	T	C	7: 139,654,566	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,062,227	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446	N208S	possibly damaging	Het
Coro7	T	A	16: 4,675,807	H63L	probably benign	Het
Cps1	T	A	1: 67,177,014	W833R	probably damaging	Het
Csmd3	A	T	15: 47,659,153	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Ddx50	A	T	10: 62,642,837	I190K	probably damaging	Het
Dnmt3l	G	A	10: 78,055,055	V264M	probably damaging	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Fam163a	A	G	1: 156,079,969	C26R	probably damaging	Het
Fam83h	A	G	15: 76,003,629	S620P	probably benign	Het
Fcna	A	G	2: 25,625,059	S263P	probably benign	Het
Fnip2	A	T	3: 79,512,378	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,148	T244A	probably benign	Het
Gpr152	T	C	19: 4,143,542	S361P	possibly damaging	Het
Grm5	A	T	7: 87,602,967	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,237,798	S229P	probably benign	Het
Htr7	C	T	19: 35,969,486	G376D	probably damaging	Het
Irgc1	T	C	7: 24,432,471	D307G	probably benign	Het
Irs1	A	T	1: 82,288,660	S612T	probably benign	Het
Maml2	C	T	9: 13,620,594	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,097,335	V64A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nptx1	C	T	11: 119,542,541	E411K	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr995	C	A	2: 85,438,237	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,412,190	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,234,649	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,911,707	T679A	probably damaging	Het
Sipa1l2	G	A	8: 125,447,697	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,157,000	M222V	probably benign	Het
Smg9	T	C	7: 24,420,888	F429S	possibly damaging	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorl1	T	A	9: 42,081,954	Y258F	probably damaging	Het
Srp72	C	T	5: 76,984,200	T242I	probably benign	Het
Stc1	A	T	14: 69,038,418	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,711,832	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 127,199,034	L645P	probably damaging	Het
Timd4	T	A	11: 46,837,071	H272Q	probably benign	Het
Ttll5	T	G	12: 85,876,594		probably null	Het
Veph1	G	T	3: 66,057,259	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 20,846,816	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,856,154	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,784,962	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,276,281	R897H	probably damaging	Het

Other mutations in BC005561

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:BC005561	APN	5	104520500	missense	probably damaging	1.00
IGL01024:BC005561	APN	5	104521746	missense	probably benign	0.02
IGL01133:BC005561	APN	5	104517662	missense	probably benign
IGL01564:BC005561	APN	5	104520663	missense	probably benign	0.12
IGL01727:BC005561	APN	5	104519513	missense	probably benign	0.01
IGL02086:BC005561	APN	5	104519001	missense	possibly damaging	0.49
IGL02153:BC005561	APN	5	104521083	missense	probably benign	0.02
IGL02256:BC005561	APN	5	104520283	nonsense	probably null
IGL02436:BC005561	APN	5	104521155	missense	probably benign	0.10
IGL02969:BC005561	APN	5	104519343	missense	probably benign	0.01
IGL03275:BC005561	APN	5	104518277	missense	probably benign	0.00
IGL03357:BC005561	APN	5	104520468	missense	probably damaging	1.00
F2404:BC005561	UTSW	5	104520230	missense	possibly damaging	0.83
R0349:BC005561	UTSW	5	104519976	missense	possibly damaging	0.85
R0454:BC005561	UTSW	5	104518211	missense	probably benign	0.45
R0742:BC005561	UTSW	5	104522154	missense	probably benign	0.00
R0842:BC005561	UTSW	5	104519200	missense	possibly damaging	0.81
R0882:BC005561	UTSW	5	104519009	missense	probably benign	0.05
R1123:BC005561	UTSW	5	104518470	missense	probably damaging	1.00
R1171:BC005561	UTSW	5	104520903	missense	possibly damaging	0.49
R1205:BC005561	UTSW	5	104520213	missense	probably benign	0.28
R1261:BC005561	UTSW	5	104520635	missense	probably damaging	0.98
R1432:BC005561	UTSW	5	104518104	missense	probably damaging	1.00
R1447:BC005561	UTSW	5	104522204	missense	possibly damaging	0.89
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1466:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1584:BC005561	UTSW	5	104518257	missense	probably damaging	0.99
R1636:BC005561	UTSW	5	104520750	missense	probably damaging	0.99
R1686:BC005561	UTSW	5	104519923	nonsense	probably null
R1698:BC005561	UTSW	5	104520510	missense	probably benign	0.09
R1816:BC005561	UTSW	5	104517834	missense	probably benign	0.16
R1903:BC005561	UTSW	5	104518330	missense	probably benign	0.00
R2096:BC005561	UTSW	5	104519969	missense	possibly damaging	0.95
R2146:BC005561	UTSW	5	104518991	missense	probably benign
R2226:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2227:BC005561	UTSW	5	104519420	missense	probably damaging	1.00
R2383:BC005561	UTSW	5	104518988	missense	probably benign	0.23
R2656:BC005561	UTSW	5	104519315	missense	probably benign	0.05
R3982:BC005561	UTSW	5	104521023	missense	probably benign	0.29
R3983:BC005561	UTSW	5	104521023	missense	probably benign	0.29
R4115:BC005561	UTSW	5	104519433	missense	probably damaging	1.00
R4345:BC005561	UTSW	5	104521449	missense	probably benign	0.21
R4697:BC005561	UTSW	5	104522240	missense	probably benign	0.00
R4711:BC005561	UTSW	5	104519661	missense	probably damaging	0.98
R4742:BC005561	UTSW	5	104518857	missense	probably benign	0.17
R4758:BC005561	UTSW	5	104520399	missense	possibly damaging	0.48
R4863:BC005561	UTSW	5	104517750	missense	possibly damaging	0.89
R4867:BC005561	UTSW	5	104521002	missense	possibly damaging	0.91
R5024:BC005561	UTSW	5	104522258	missense	possibly damaging	0.68
R5114:BC005561	UTSW	5	104519876	missense	probably damaging	0.99
R5117:BC005561	UTSW	5	104520255	missense	probably damaging	1.00
R5289:BC005561	UTSW	5	104519657	missense	probably benign	0.03
R5341:BC005561	UTSW	5	104518076	missense	probably damaging	1.00
R5420:BC005561	UTSW	5	104518359	missense	probably damaging	0.99
R5421:BC005561	UTSW	5	104518395	missense	probably benign	0.01
R5422:BC005561	UTSW	5	104519646	missense	probably damaging	0.98
R5606:BC005561	UTSW	5	104521878	missense	probably benign	0.00
R5939:BC005561	UTSW	5	104519207	missense	possibly damaging	0.56
R6104:BC005561	UTSW	5	104518218	missense	probably damaging	1.00
R6169:BC005561	UTSW	5	104518396	missense	probably benign	0.00
R6316:BC005561	UTSW	5	104519729	missense	probably damaging	1.00
R6352:BC005561	UTSW	5	104520198	missense	probably benign	0.11
R6408:BC005561	UTSW	5	104518777	missense	probably benign	0.19
R6458:BC005561	UTSW	5	104522303	missense	probably benign	0.02
R6722:BC005561	UTSW	5	104520279	missense	probably damaging	0.99
R6789:BC005561	UTSW	5	104517689	missense	probably benign	0.00
R7214:BC005561	UTSW	5	104522363	missense	probably benign
R7494:BC005561	UTSW	5	104518418	missense	possibly damaging	0.90
R7733:BC005561	UTSW	5	104519960	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTTGAACCTCCTGGAAGCAAGAGTG -3'
(R):5'- TTGATAAGGCCCAATGACCCCAATG -3'

Sequencing Primer
(F):5'- GTTAGTGCATAAGTGCGGAC -3'
(R):5'- GATCCAAGCGTTCCTTTAGAACTG -3'

Posted On

2013-04-16