Mutagenetix > Incidental Mutation

Incidental Mutation 'R5603:Bud31'

439130

Institutional Source

Beutler Lab

Gene Symbol

Bud31

Ensembl Gene

ENSMUSG00000038722

Gene Name

BUD31 homolog

Synonyms

MMRRC Submission

043155-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145077186-145084888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145081769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 52 (I52T)

Ref Sequence

ENSEMBL: ENSMUSP00000125738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031627] [ENSMUST00000031628] [ENSMUST00000159018] [ENSMUST00000160075] [ENSMUST00000162594] [ENSMUST00000162308]

AlphaFold

Q6PGH1

Predicted Effect

probably benign
Transcript: ENSMUST00000031627

SMART Domains

Protein: ENSMUSP00000031627
Gene: ENSMUSG00000029623

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	28	47	N/A	INTRINSIC
low complexity region	52	69	N/A	INTRINSIC
Pfam:PP28	84	163	3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031628

SMART Domains

Protein: ENSMUSP00000031628
Gene: ENSMUSG00000029624

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
low complexity region	64	74	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
Pfam:PPR_2	169	218	1.2e-16	PFAM
Pfam:PPR	172	202	1.1e-9	PFAM
Pfam:PPR_3	173	204	2.5e-5	PFAM
Pfam:PPR_3	245	278	3.2e-5	PFAM
Pfam:PPR	246	276	6.5e-4	PFAM
internal_repeat_1	437	595	1.57e-9	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159018
AA Change: I52T

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124999
Gene: ENSMUSG00000038722
AA Change: I52T

Domain	Start	End	E-Value	Type
Pfam:G10	1	144	2.2e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160004

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160075
AA Change: I52T

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125564
Gene: ENSMUSG00000038722
AA Change: I52T

Domain	Start	End	E-Value	Type
Pfam:G10	1	144	2.2e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160840

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162594
AA Change: I52T

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125738
Gene: ENSMUSG00000038722
AA Change: I52T

Domain	Start	End	E-Value	Type
Pfam:G10	1	144	2.2e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161974

Predicted Effect

probably benign
Transcript: ENSMUST00000162308

SMART Domains

Protein: ENSMUSP00000125590
Gene: ENSMUSG00000038722

Domain	Start	End	E-Value	Type
Pfam:G10	29	103	9.4e-36	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	A	G	5: 144,202,787 (GRCm39)	S509P	probably damaging	Het
Cacna1g	C	T	11: 94,330,578 (GRCm39)	S979N	possibly damaging	Het
Cacna2d4	T	A	6: 119,221,246 (GRCm39)	W253R	probably damaging	Het
Ccna1	A	G	3: 54,958,330 (GRCm39)	Y118H	probably damaging	Het
Cct8l1	A	G	5: 25,721,497 (GRCm39)	T71A	probably benign	Het
Chaf1b	A	G	16: 93,689,683 (GRCm39)	T19A	probably damaging	Het
Col6a2	A	T	10: 76,432,603 (GRCm39)	V850D	probably damaging	Het
Cpsf2	C	A	12: 101,964,890 (GRCm39)	Q513K	probably benign	Het
Dnah5	T	G	15: 28,420,078 (GRCm39)	V3792G	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Exoc6b	T	C	6: 84,812,126 (GRCm39)	D625G	possibly damaging	Het
Gad1	C	A	2: 70,420,173 (GRCm39)	F352L	probably damaging	Het
Gm5422	T	A	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,900,395 (GRCm39)	E162G	probably damaging	Het
Grm6	T	A	11: 50,747,786 (GRCm39)	F333I	probably damaging	Het
Heatr5a	A	G	12: 51,924,358 (GRCm39)	F1952L	probably benign	Het
Ighv1-42	C	T	12: 114,901,132 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,450,706 (GRCm39)	T578A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mfsd14b	T	C	13: 65,221,420 (GRCm39)	K291E	probably benign	Het
Mllt6	T	C	11: 97,564,331 (GRCm39)	L379P	probably damaging	Het
Mtmr6	A	T	14: 60,522,450 (GRCm39)	K183*	probably null	Het
Mylk	A	G	16: 34,776,862 (GRCm39)	N1345S	probably benign	Het
Nab2	A	T	10: 127,500,990 (GRCm39)	M1K	probably null	Het
Ngly1	C	A	14: 16,260,762 (GRCm38)	Q149K	probably benign	Het
Npy6r	T	A	18: 44,409,652 (GRCm39)	S358T	probably damaging	Het
Pbld2	A	G	10: 62,907,228 (GRCm39)	T156A	probably benign	Het
Pik3cd	A	T	4: 149,743,312 (GRCm39)	C263S	probably benign	Het
Pramel21	T	A	4: 143,344,066 (GRCm39)	C455*	probably null	Het
Ptk2b	A	T	14: 66,409,514 (GRCm39)	Y507*	probably null	Het
Rbm25	C	T	12: 83,710,990 (GRCm39)	R368*	probably null	Het
Rnf207	T	C	4: 152,396,851 (GRCm39)	Y396C	probably damaging	Het
Skint2	T	A	4: 112,506,961 (GRCm39)	V328E	possibly damaging	Het
Slc3a2	A	G	19: 8,691,092 (GRCm39)	V7A	probably benign	Het
Spata18	G	A	5: 73,828,575 (GRCm39)	V265I	probably benign	Het
Tmem120b	T	A	5: 123,239,705 (GRCm39)	V108D	possibly damaging	Het
Ugt1a2	T	C	1: 88,129,148 (GRCm39)	Y264H	probably damaging	Het

Other mutations in Bud31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03057:Bud31	APN	5	145,083,378 (GRCm39)	missense	probably benign	0.00
FR4548:Bud31	UTSW	5	145,083,345 (GRCm39)	missense	probably benign	0.02
R0465:Bud31	UTSW	5	145,083,396 (GRCm39)	missense	probably damaging	1.00
R0492:Bud31	UTSW	5	145,083,265 (GRCm39)	missense	probably damaging	1.00
R0707:Bud31	UTSW	5	145,083,265 (GRCm39)	missense	probably damaging	1.00
R1170:Bud31	UTSW	5	145,079,388 (GRCm39)	splice site	probably benign
R8874:Bud31	UTSW	5	145,079,379 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACGCCAGTTCTTGTCAG -3'
(R):5'- GTATAAATCCTGAAAGCCACTCAAG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- GTCTAATGACCTGAATTGGATCCC -3'

Posted On

2016-10-26