Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:BC055324'

388518

Institutional Source

Beutler Lab

Gene Symbol

BC055324

Ensembl Gene

ENSMUSG00000041406

Gene Name

cDNA sequence BC055324

Synonyms

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163945993-163994796 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163987674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 93 (T93A)

Ref Sequence

ENSEMBL: ENSMUSP00000095101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000160926]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045876
AA Change: T93A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: T93A

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	2.3e-209	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097493
AA Change: T93A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: T93A

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	1.3e-186	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160926

SMART Domains

Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162949

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het

Other mutations in BC055324

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:BC055324	APN	1	163957522	missense	probably benign	0.01
IGL02638:BC055324	APN	1	163959299	nonsense	probably null
IGL03337:BC055324	APN	1	163990759	missense	probably damaging	0.96
IGL03048:BC055324	UTSW	1	163964525	missense	probably benign	0.04
R0106:BC055324	UTSW	1	163982811	unclassified	probably benign
R0106:BC055324	UTSW	1	163982811	unclassified	probably benign
R0414:BC055324	UTSW	1	163968321	missense	probably benign	0.02
R0511:BC055324	UTSW	1	163971843	splice site	probably null
R1323:BC055324	UTSW	1	163955461	unclassified	probably benign
R1870:BC055324	UTSW	1	163964794	missense	probably damaging	1.00
R2129:BC055324	UTSW	1	163966457	missense	probably damaging	1.00
R3716:BC055324	UTSW	1	163956888	missense	probably damaging	1.00
R3783:BC055324	UTSW	1	163987683	missense	probably benign	0.27
R3872:BC055324	UTSW	1	163986964	missense	probably damaging	0.99
R4427:BC055324	UTSW	1	163954284	missense	probably benign
R5620:BC055324	UTSW	1	163962044	nonsense	probably null
R5681:BC055324	UTSW	1	163962085	missense	probably damaging	1.00
R5699:BC055324	UTSW	1	163957551	missense	probably benign	0.26
R5936:BC055324	UTSW	1	163987012	missense	probably benign	0.00
R6065:BC055324	UTSW	1	163959388	missense	probably benign	0.08
R6065:BC055324	UTSW	1	163987688	missense	probably damaging	1.00
R6075:BC055324	UTSW	1	163978087	missense	probably damaging	1.00
R6466:BC055324	UTSW	1	163954165	missense	probably benign	0.01
R6701:BC055324	UTSW	1	163971843	splice site	probably null
R6776:BC055324	UTSW	1	163976749	missense	probably damaging	1.00
R6851:BC055324	UTSW	1	163964767	missense	probably damaging	1.00
R6923:BC055324	UTSW	1	163986885	critical splice donor site	probably null
R7125:BC055324	UTSW	1	163962062	missense	probably benign	0.00
R7361:BC055324	UTSW	1	163986033	missense	possibly damaging	0.54
R7492:BC055324	UTSW	1	163959328	missense	probably benign	0.35
R8528:BC055324	UTSW	1	163986083	missense	probably damaging	1.00
R8755:BC055324	UTSW	1	163959326	missense	probably damaging	1.00
R8786:BC055324	UTSW	1	163964471	missense	probably damaging	1.00
R8938:BC055324	UTSW	1	163961972	missense	probably benign	0.01
R8957:BC055324	UTSW	1	163964766	missense	probably damaging	1.00
R9023:BC055324	UTSW	1	163990731	missense	possibly damaging	0.83
R9132:BC055324	UTSW	1	163986945	missense	probably damaging	0.99
R9159:BC055324	UTSW	1	163986945	missense	probably damaging	0.99
R9229:BC055324	UTSW	1	163967090	missense	probably damaging	1.00
R9310:BC055324	UTSW	1	163964520	missense	probably damaging	1.00
R9455:BC055324	UTSW	1	163954152	missense	probably benign	0.05
R9463:BC055324	UTSW	1	163968338	missense	probably benign	0.00
R9597:BC055324	UTSW	1	163976771	missense	probably null	1.00
R9646:BC055324	UTSW	1	163994626	missense	probably damaging	0.97
Z1177:BC055324	UTSW	1	163964517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCATGCATGAGGTACCAC -3'
(R):5'- GGCTGAGAAGCACTTAAAGAAATGTTC -3'

Sequencing Primer
(F):5'- ATGCATGAGGTACCACCCCTG -3'
(R):5'- GTTCAACATCCTTAGTTATCTGGG -3'

Posted On

2016-06-06