Mutagenetix > Incidental Mutation

Incidental Mutation 'R8351:Bola1'

645509

Institutional Source

Beutler Lab

Gene Symbol

Bola1

Ensembl Gene

ENSMUSG00000015943

Gene Name

bolA family member 1

Synonyms

1810037G04Rik

MMRRC Submission

067804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8351 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96103899-96107724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96104573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 7 (A7V)

Ref Sequence

ENSEMBL: ENSMUSP00000016087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016087] [ENSMUST00000035371] [ENSMUST00000107099] [ENSMUST00000177442]

AlphaFold

Q9D8S9

PDB Structure

Solution structure of BolA1 protein from Mus musculus [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000016087
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016087
Gene: ENSMUSG00000015943
AA Change: A7V

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:BolA	38	114	4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035371

SMART Domains

Protein: ENSMUSP00000037576
Gene: ENSMUSG00000038486

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
Pfam:Sugar_tr	149	484	5.3e-30	PFAM
Pfam:MFS_1	168	483	1.6e-24	PFAM
Pfam:Pentapeptide_4	513	585	7.7e-11	PFAM
Pfam:MFS_1	561	739	3.9e-12	PFAM
Pfam:Sugar_tr	588	742	4.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107099
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102716
Gene: ENSMUSG00000015943
AA Change: A7V

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:BolA	38	114	4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177442
AA Change: A7V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134765
Gene: ENSMUSG00000015943
AA Change: A7V

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
Pfam:BolA	40	113	7.8e-33	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,561,188 (GRCm39)	T158M	probably benign	Het
Acss3	T	C	10: 106,885,265 (GRCm39)	H242R	probably damaging	Het
Ago2	G	T	15: 73,002,739 (GRCm39)	D164E	probably damaging	Het
Arl2bp	G	A	8: 95,393,507 (GRCm39)	E6K	unknown	Het
Ccdc18	A	G	5: 108,303,663 (GRCm39)	E249G	probably damaging	Het
Cep162	G	A	9: 87,074,903 (GRCm39)	Q1360*	probably null	Het
Cep350	T	C	1: 155,747,780 (GRCm39)	I2047V	probably damaging	Het
Cntnap5c	C	T	17: 58,362,687 (GRCm39)	R347W	probably damaging	Het
Eif4a3l1	T	A	6: 136,305,542 (GRCm39)	M1K	probably null	Het
Fmo6	C	T	1: 162,748,174 (GRCm39)	V297M	probably damaging	Het
Furin	C	T	7: 80,048,470 (GRCm39)	V17M	probably benign	Het
Hs6st1	A	G	1: 36,108,141 (GRCm39)	T135A	probably damaging	Het
Klk1	A	G	7: 43,878,410 (GRCm39)	E190G	probably benign	Het
Map3k21	T	C	8: 126,671,472 (GRCm39)	L920P	probably benign	Het
Mecom	T	A	3: 30,039,519 (GRCm39)	H180L	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Nrxn3	A	G	12: 89,477,413 (GRCm39)	D532G	probably damaging	Het
Nufip2	A	G	11: 77,583,181 (GRCm39)	N365S	probably damaging	Het
Or12j2	T	C	7: 139,916,518 (GRCm39)	Y248H	probably damaging	Het
Or4f47	A	T	2: 111,972,406 (GRCm39)	M39L	probably benign	Het
Or6b2	T	C	1: 92,407,660 (GRCm39)	I228V	probably benign	Het
Pgbd1	A	T	13: 21,607,550 (GRCm39)	S215T	probably benign	Het
Ptcd3	A	G	6: 71,885,625 (GRCm39)	C34R	probably benign	Het
S100a7l2	A	T	3: 90,995,671 (GRCm39)	M77K	probably benign	Het
Samd4	A	G	14: 47,338,888 (GRCm39)	D703G	probably damaging	Het
Scaper	A	T	9: 55,724,088 (GRCm39)	N623K	possibly damaging	Het
Slc12a9	C	A	5: 137,313,737 (GRCm39)	V741L	probably benign	Het
Slc12a9	T	C	5: 137,326,710 (GRCm39)	D249G	probably benign	Het
Slc3a1	A	G	17: 85,335,924 (GRCm39)	N22S	possibly damaging	Het
Sugct	A	G	13: 17,427,143 (GRCm39)	L339P	probably damaging	Het
Tenm3	T	C	8: 48,740,907 (GRCm39)	D1192G	probably damaging	Het
Tinagl1	T	A	4: 130,061,376 (GRCm39)	D289V	probably damaging	Het
Tnrc6b	C	A	15: 80,807,691 (GRCm39)	P1548T	probably damaging	Het
Vmn1r173	T	A	7: 23,401,957 (GRCm39)	L64*	probably null	Het
Zcchc2	T	A	1: 105,958,662 (GRCm39)	N1044K	probably damaging	Het
Zfp750	T	C	11: 121,404,135 (GRCm39)	I247V	probably benign	Het

Other mutations in Bola1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1728:Bola1	UTSW	3	96,104,426 (GRCm39)	missense	probably benign
R1784:Bola1	UTSW	3	96,104,426 (GRCm39)	missense	probably benign
R2165:Bola1	UTSW	3	96,104,517 (GRCm39)	missense	probably benign	0.00
R4960:Bola1	UTSW	3	96,104,370 (GRCm39)	missense	probably benign	0.00
R8306:Bola1	UTSW	3	96,104,517 (GRCm39)	missense	probably benign	0.00
R8350:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign
R8352:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign
R8450:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign
R8451:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign
R8452:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign
R8476:Bola1	UTSW	3	96,104,573 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTCCAACTGTGGGTTTTCTC -3'
(R):5'- CTCAGCCAAAAGGACCAAGTTG -3'

Sequencing Primer
(F):5'- ACAGTGCCTCGTGGACCAAC -3'
(R):5'- AGTGCCCTTAGTGCCTAGC -3'

Posted On

2020-09-02