Mutagenetix > Incidental Mutation

Incidental Mutation 'R4414:Bod1l'

328058

Institutional Source

Beutler Lab

Gene Symbol

Bod1l

Ensembl Gene

ENSMUSG00000061755

Gene Name

biorientation of chromosomes in cell division 1-like

Synonyms

A230054D04Rik

MMRRC Submission

041694-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R4414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41944881-42001658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41977870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1148 (T1148I)

Ref Sequence

ENSEMBL: ENSMUSP00000144359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050556] [ENSMUST00000202908]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050556
AA Change: T1148I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000058618
Gene: ENSMUSG00000061755
AA Change: T1148I

Domain	Start	End	E-Value	Type
low complexity region	5	47	N/A	INTRINSIC
Pfam:COMPASS-Shg1	54	150	1.8e-28	PFAM
low complexity region	328	343	N/A	INTRINSIC
low complexity region	415	435	N/A	INTRINSIC
low complexity region	475	484	N/A	INTRINSIC
coiled coil region	495	520	N/A	INTRINSIC
coiled coil region	553	580	N/A	INTRINSIC
low complexity region	820	840	N/A	INTRINSIC
low complexity region	895	916	N/A	INTRINSIC
low complexity region	996	1005	N/A	INTRINSIC
low complexity region	1023	1041	N/A	INTRINSIC
low complexity region	1272	1286	N/A	INTRINSIC
low complexity region	1791	1809	N/A	INTRINSIC
low complexity region	2695	2701	N/A	INTRINSIC
low complexity region	2711	2729	N/A	INTRINSIC
AT_hook	2807	2819	3.21e-1	SMART
coiled coil region	2908	2929	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202200

Predicted Effect

probably benign
Transcript: ENSMUST00000202908
AA Change: T1148I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144359
Gene: ENSMUSG00000061755
AA Change: T1148I

Domain	Start	End	E-Value	Type
low complexity region	5	47	N/A	INTRINSIC
Pfam:COMPASS-Shg1	54	150	2.9e-24	PFAM
low complexity region	328	343	N/A	INTRINSIC
low complexity region	415	435	N/A	INTRINSIC
low complexity region	475	484	N/A	INTRINSIC
coiled coil region	495	520	N/A	INTRINSIC
coiled coil region	553	580	N/A	INTRINSIC
low complexity region	820	840	N/A	INTRINSIC
low complexity region	895	916	N/A	INTRINSIC
low complexity region	996	1005	N/A	INTRINSIC
low complexity region	1023	1041	N/A	INTRINSIC
low complexity region	1272	1286	N/A	INTRINSIC
low complexity region	1791	1809	N/A	INTRINSIC
low complexity region	2695	2701	N/A	INTRINSIC
low complexity region	2711	2729	N/A	INTRINSIC
AT_hook	2807	2819	1.9e-3	SMART
coiled coil region	2908	2929	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	A	14: 44,406,690 (GRCm39)	M120L	probably benign	Het
Aco2	A	G	15: 81,773,584 (GRCm39)		probably null	Het
Acss1	A	G	2: 150,501,823 (GRCm39)	S115P	possibly damaging	Het
Ank2	A	T	3: 127,019,411 (GRCm39)		probably null	Het
AU041133	C	T	10: 81,987,316 (GRCm39)	T323M	probably damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Celsr1	C	T	15: 85,847,334 (GRCm39)	V1468I	probably benign	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cep89	A	G	7: 35,115,822 (GRCm39)		probably benign	Het
Cfap58	A	G	19: 47,941,480 (GRCm39)	K283E	possibly damaging	Het
Cog5	C	T	12: 31,710,853 (GRCm39)	Q78*	probably null	Het
Col20a1	C	T	2: 180,643,043 (GRCm39)	R796C	possibly damaging	Het
Dnah7b	A	T	1: 46,165,840 (GRCm39)	T502S	probably benign	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Dse	A	T	10: 34,028,632 (GRCm39)	F819L	probably benign	Het
Eloa	G	T	4: 135,738,553 (GRCm39)	L136I	possibly damaging	Het
Eloa	T	A	4: 135,738,576 (GRCm39)	H128L	probably benign	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Golim4	T	G	3: 75,802,347 (GRCm39)	N287T	probably benign	Het
Gpx8	T	A	13: 113,179,682 (GRCm39)	K206N	possibly damaging	Het
Iqgap3	G	T	3: 88,004,293 (GRCm39)	V460F	probably benign	Het
Kcne4	A	T	1: 78,795,651 (GRCm39)	M100L	probably benign	Het
Kmt2a	A	T	9: 44,721,077 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,962,387 (GRCm39)	W1117*	probably null	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lmln	T	G	16: 32,930,220 (GRCm39)	I559S	probably benign	Het
Mapk4	A	T	18: 74,063,609 (GRCm39)	F538I	possibly damaging	Het
Mlxipl	A	G	5: 135,166,253 (GRCm39)		probably benign	Het
Mmrn1	T	C	6: 60,921,570 (GRCm39)	L9P	probably damaging	Het
Mnat1	G	A	12: 73,228,601 (GRCm39)	R155H	probably damaging	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Naaladl1	T	C	19: 6,165,581 (GRCm39)	L745P	probably damaging	Het
Obsl1	A	T	1: 75,467,546 (GRCm39)	D1409E	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Pla2g4e	A	T	2: 120,013,194 (GRCm39)	H375Q	probably benign	Het
Prodh2	G	A	7: 30,205,877 (GRCm39)	V238M	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rock1	A	T	18: 10,080,514 (GRCm39)	M1010K	probably damaging	Het
Ros1	A	G	10: 52,038,800 (GRCm39)		probably null	Het
Sim1	A	T	10: 50,857,708 (GRCm39)	D486V	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Src	A	G	2: 157,306,573 (GRCm39)	D192G	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tmem145	A	G	7: 25,006,554 (GRCm39)	Y54C	probably damaging	Het
Try4	C	T	6: 41,281,905 (GRCm39)	P164S	possibly damaging	Het
Vegfc	A	T	8: 54,634,130 (GRCm39)	N270Y	probably benign	Het

Other mutations in Bod1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Bod1l	APN	5	41,974,166 (GRCm39)	missense	probably benign	0.00
IGL00990:Bod1l	APN	5	41,986,208 (GRCm39)	missense	probably benign	0.00
IGL01021:Bod1l	APN	5	41,995,516 (GRCm39)	splice site	probably benign
IGL01022:Bod1l	APN	5	41,951,652 (GRCm39)	missense	probably damaging	1.00
IGL01303:Bod1l	APN	5	41,974,942 (GRCm39)	missense	probably benign	0.00
IGL01654:Bod1l	APN	5	41,975,519 (GRCm39)	missense	probably damaging	0.99
IGL01748:Bod1l	APN	5	41,974,304 (GRCm39)	missense	probably benign	0.23
IGL01758:Bod1l	APN	5	41,983,953 (GRCm39)	splice site	probably benign
IGL01783:Bod1l	APN	5	41,966,055 (GRCm39)	missense	probably benign	0.02
IGL01790:Bod1l	APN	5	41,989,593 (GRCm39)	missense	probably benign	0.14
IGL01803:Bod1l	APN	5	41,974,732 (GRCm39)	missense	probably damaging	0.97
IGL01829:Bod1l	APN	5	41,977,811 (GRCm39)	missense	probably benign	0.25
IGL01952:Bod1l	APN	5	41,974,297 (GRCm39)	missense	possibly damaging	0.70
IGL02005:Bod1l	APN	5	41,973,682 (GRCm39)	missense	probably benign	0.01
IGL02110:Bod1l	APN	5	41,973,796 (GRCm39)	missense	probably damaging	0.97
IGL02129:Bod1l	APN	5	41,979,193 (GRCm39)	missense	probably benign	0.36
IGL02572:Bod1l	APN	5	41,978,573 (GRCm39)	nonsense	probably null
IGL02583:Bod1l	APN	5	41,973,550 (GRCm39)	critical splice donor site	probably null
IGL02643:Bod1l	APN	5	41,976,148 (GRCm39)	missense	possibly damaging	0.65
IGL02714:Bod1l	APN	5	41,973,682 (GRCm39)	missense	probably benign	0.01
IGL02728:Bod1l	APN	5	41,983,846 (GRCm39)	missense	probably damaging	1.00
IGL02752:Bod1l	APN	5	41,973,806 (GRCm39)	missense	possibly damaging	0.58
IGL02822:Bod1l	APN	5	41,951,688 (GRCm39)	missense	possibly damaging	0.94
IGL03032:Bod1l	APN	5	41,988,927 (GRCm39)	missense	probably benign	0.16
IGL03372:Bod1l	APN	5	41,962,578 (GRCm39)	splice site	probably benign
capacitance	UTSW	5	41,949,156 (GRCm39)	missense	possibly damaging	0.91
gauss	UTSW	5	41,974,210 (GRCm39)	missense	probably benign	0.01
Tesla	UTSW	5	41,952,411 (GRCm39)	critical splice donor site	probably null
R0102:Bod1l	UTSW	5	41,974,612 (GRCm39)	missense	probably benign	0.36
R0147:Bod1l	UTSW	5	41,976,040 (GRCm39)	missense	possibly damaging	0.48
R0148:Bod1l	UTSW	5	41,976,040 (GRCm39)	missense	possibly damaging	0.48
R0490:Bod1l	UTSW	5	41,979,235 (GRCm39)	missense	probably damaging	0.96
R0577:Bod1l	UTSW	5	41,952,230 (GRCm39)	missense	probably damaging	1.00
R0587:Bod1l	UTSW	5	41,978,980 (GRCm39)	missense	probably benign	0.16
R0620:Bod1l	UTSW	5	41,958,576 (GRCm39)	missense	probably benign	0.16
R0626:Bod1l	UTSW	5	41,988,880 (GRCm39)	missense	probably damaging	1.00
R0785:Bod1l	UTSW	5	41,977,359 (GRCm39)	missense	probably benign	0.00
R1139:Bod1l	UTSW	5	41,988,814 (GRCm39)	missense	possibly damaging	0.64
R1165:Bod1l	UTSW	5	41,978,396 (GRCm39)	missense	probably benign	0.02
R1418:Bod1l	UTSW	5	41,976,814 (GRCm39)	missense	probably damaging	1.00
R1509:Bod1l	UTSW	5	41,976,883 (GRCm39)	missense	probably damaging	0.99
R1533:Bod1l	UTSW	5	41,979,498 (GRCm39)	nonsense	probably null
R1538:Bod1l	UTSW	5	41,973,772 (GRCm39)	missense	probably benign	0.00
R1591:Bod1l	UTSW	5	41,976,563 (GRCm39)	missense	probably benign	0.06
R1616:Bod1l	UTSW	5	41,966,058 (GRCm39)	missense	probably benign
R1628:Bod1l	UTSW	5	41,974,325 (GRCm39)	missense	probably benign	0.01
R1667:Bod1l	UTSW	5	41,974,118 (GRCm39)	missense	probably benign	0.01
R1869:Bod1l	UTSW	5	41,991,018 (GRCm39)	missense	possibly damaging	0.93
R1870:Bod1l	UTSW	5	41,991,018 (GRCm39)	missense	possibly damaging	0.93
R1993:Bod1l	UTSW	5	41,974,679 (GRCm39)	missense	probably damaging	1.00
R2060:Bod1l	UTSW	5	41,966,085 (GRCm39)	missense	possibly damaging	0.58
R2066:Bod1l	UTSW	5	41,962,499 (GRCm39)	missense	probably damaging	0.99
R2067:Bod1l	UTSW	5	41,974,429 (GRCm39)	missense	probably benign	0.11
R2073:Bod1l	UTSW	5	41,976,532 (GRCm39)	missense	probably benign	0.19
R2092:Bod1l	UTSW	5	41,988,860 (GRCm39)	missense	probably damaging	1.00
R2105:Bod1l	UTSW	5	41,989,622 (GRCm39)	missense	probably benign	0.00
R2243:Bod1l	UTSW	5	41,978,888 (GRCm39)	missense	possibly damaging	0.58
R2322:Bod1l	UTSW	5	41,984,463 (GRCm39)	missense	probably benign	0.09
R2849:Bod1l	UTSW	5	41,995,419 (GRCm39)	missense	probably damaging	1.00
R2883:Bod1l	UTSW	5	41,989,602 (GRCm39)	missense	probably benign	0.03
R3037:Bod1l	UTSW	5	41,979,380 (GRCm39)	missense	probably damaging	0.99
R3910:Bod1l	UTSW	5	41,974,441 (GRCm39)	missense	probably damaging	0.99
R3911:Bod1l	UTSW	5	41,974,441 (GRCm39)	missense	probably damaging	0.99
R3962:Bod1l	UTSW	5	41,966,064 (GRCm39)	missense	probably benign	0.07
R4235:Bod1l	UTSW	5	41,978,798 (GRCm39)	missense	probably damaging	1.00
R4308:Bod1l	UTSW	5	41,949,156 (GRCm39)	missense	possibly damaging	0.91
R4535:Bod1l	UTSW	5	41,989,574 (GRCm39)	missense	probably benign	0.06
R4631:Bod1l	UTSW	5	41,975,078 (GRCm39)	missense	probably damaging	1.00
R4657:Bod1l	UTSW	5	41,975,955 (GRCm39)	missense	probably benign	0.00
R4782:Bod1l	UTSW	5	41,991,006 (GRCm39)	missense	probably benign	0.06
R4786:Bod1l	UTSW	5	41,976,781 (GRCm39)	missense	probably benign	0.43
R4840:Bod1l	UTSW	5	41,975,815 (GRCm39)	missense	probably damaging	1.00
R4877:Bod1l	UTSW	5	41,977,337 (GRCm39)	missense	probably benign	0.00
R4982:Bod1l	UTSW	5	41,977,816 (GRCm39)	missense	probably benign	0.00
R5152:Bod1l	UTSW	5	41,973,886 (GRCm39)	missense	probably benign	0.04
R5284:Bod1l	UTSW	5	41,977,810 (GRCm39)	missense	probably benign	0.05
R5354:Bod1l	UTSW	5	41,988,880 (GRCm39)	missense	probably damaging	1.00
R5369:Bod1l	UTSW	5	41,984,526 (GRCm39)	missense	probably damaging	1.00
R5486:Bod1l	UTSW	5	41,964,524 (GRCm39)	missense	possibly damaging	0.56
R5541:Bod1l	UTSW	5	41,949,276 (GRCm39)	missense	probably benign	0.06
R5610:Bod1l	UTSW	5	41,979,217 (GRCm39)	missense	probably damaging	1.00
R5655:Bod1l	UTSW	5	41,974,387 (GRCm39)	missense	probably benign	0.06
R5705:Bod1l	UTSW	5	41,974,345 (GRCm39)	missense	probably benign	0.01
R5819:Bod1l	UTSW	5	41,989,948 (GRCm39)	missense	probably benign	0.27
R5890:Bod1l	UTSW	5	41,977,921 (GRCm39)	missense	probably benign	0.43
R5923:Bod1l	UTSW	5	41,974,762 (GRCm39)	missense	probably damaging	1.00
R5991:Bod1l	UTSW	5	41,974,206 (GRCm39)	nonsense	probably null
R6017:Bod1l	UTSW	5	41,976,103 (GRCm39)	missense	probably benign	0.01
R6253:Bod1l	UTSW	5	41,983,881 (GRCm39)	missense	probably damaging	0.96
R6284:Bod1l	UTSW	5	41,976,130 (GRCm39)	missense	probably benign	0.35
R6483:Bod1l	UTSW	5	41,978,425 (GRCm39)	missense	probably benign	0.03
R6485:Bod1l	UTSW	5	41,974,459 (GRCm39)	missense	possibly damaging	0.93
R6575:Bod1l	UTSW	5	41,995,411 (GRCm39)	missense	probably damaging	1.00
R6679:Bod1l	UTSW	5	41,974,009 (GRCm39)	missense	probably damaging	0.97
R6788:Bod1l	UTSW	5	41,979,216 (GRCm39)	nonsense	probably null
R7006:Bod1l	UTSW	5	41,989,895 (GRCm39)	missense	probably damaging	1.00
R7095:Bod1l	UTSW	5	41,952,411 (GRCm39)	critical splice donor site	probably null
R7111:Bod1l	UTSW	5	41,970,463 (GRCm39)	critical splice donor site	probably null
R7190:Bod1l	UTSW	5	41,977,281 (GRCm39)	missense	probably benign	0.14
R7311:Bod1l	UTSW	5	41,951,676 (GRCm39)	missense	possibly damaging	0.57
R7336:Bod1l	UTSW	5	41,978,867 (GRCm39)	missense	probably damaging	1.00
R7341:Bod1l	UTSW	5	41,946,200 (GRCm39)	missense	probably benign	0.00
R7396:Bod1l	UTSW	5	41,988,889 (GRCm39)	missense	probably damaging	1.00
R7431:Bod1l	UTSW	5	41,970,463 (GRCm39)	critical splice donor site	probably null
R7442:Bod1l	UTSW	5	41,964,522 (GRCm39)	missense	probably damaging	0.96
R7539:Bod1l	UTSW	5	41,975,203 (GRCm39)	missense	possibly damaging	0.65
R7583:Bod1l	UTSW	5	41,991,133 (GRCm39)	missense	probably damaging	1.00
R7679:Bod1l	UTSW	5	41,977,986 (GRCm39)	frame shift	probably null
R7748:Bod1l	UTSW	5	41,989,683 (GRCm39)	missense	probably damaging	0.97
R7767:Bod1l	UTSW	5	41,974,099 (GRCm39)	missense	probably benign	0.01
R7773:Bod1l	UTSW	5	41,990,055 (GRCm39)	missense	probably benign	0.14
R7782:Bod1l	UTSW	5	41,975,286 (GRCm39)	missense	probably benign	0.01
R7860:Bod1l	UTSW	5	41,976,608 (GRCm39)	missense	probably damaging	1.00
R7975:Bod1l	UTSW	5	41,973,620 (GRCm39)	missense	possibly damaging	0.90
R7977:Bod1l	UTSW	5	41,952,413 (GRCm39)	missense	probably damaging	1.00
R7987:Bod1l	UTSW	5	41,952,413 (GRCm39)	missense	probably damaging	1.00
R8104:Bod1l	UTSW	5	41,991,075 (GRCm39)	nonsense	probably null
R8217:Bod1l	UTSW	5	41,988,850 (GRCm39)	missense	probably damaging	1.00
R8307:Bod1l	UTSW	5	41,978,498 (GRCm39)	missense	probably damaging	1.00
R8469:Bod1l	UTSW	5	41,978,834 (GRCm39)	missense	possibly damaging	0.86
R8506:Bod1l	UTSW	5	41,976,398 (GRCm39)	nonsense	probably null
R8934:Bod1l	UTSW	5	41,976,944 (GRCm39)	missense	probably benign	0.11
R8984:Bod1l	UTSW	5	41,946,215 (GRCm39)	missense	probably damaging	1.00
R8989:Bod1l	UTSW	5	41,979,025 (GRCm39)	missense	probably benign	0.00
R8993:Bod1l	UTSW	5	41,974,210 (GRCm39)	missense	probably benign	0.01
R9128:Bod1l	UTSW	5	41,946,266 (GRCm39)	missense	probably benign	0.22
R9129:Bod1l	UTSW	5	41,976,220 (GRCm39)	missense	probably damaging	0.99
R9198:Bod1l	UTSW	5	41,957,129 (GRCm39)	missense	probably benign	0.08
R9254:Bod1l	UTSW	5	41,979,223 (GRCm39)	missense	probably damaging	1.00
R9445:Bod1l	UTSW	5	41,974,619 (GRCm39)	missense	probably benign	0.04
R9457:Bod1l	UTSW	5	41,979,310 (GRCm39)	missense	probably damaging	0.99
R9470:Bod1l	UTSW	5	41,974,439 (GRCm39)	missense	probably damaging	0.99
R9536:Bod1l	UTSW	5	41,974,305 (GRCm39)	missense	probably benign	0.01
R9654:Bod1l	UTSW	5	41,975,707 (GRCm39)	missense	probably benign	0.02
R9734:Bod1l	UTSW	5	41,962,573 (GRCm39)	missense	possibly damaging	0.91
R9771:Bod1l	UTSW	5	41,949,206 (GRCm39)	missense	probably damaging	0.96
X0027:Bod1l	UTSW	5	41,990,012 (GRCm39)	missense	probably benign	0.20
X0058:Bod1l	UTSW	5	41,981,361 (GRCm39)	missense	probably damaging	1.00
Z1088:Bod1l	UTSW	5	41,966,107 (GRCm39)	missense	possibly damaging	0.95
Z1088:Bod1l	UTSW	5	41,978,489 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCTAGGAGCTGCTTTTGATG -3'
(R):5'- TAGTAGCAAACATGTCAGGCAC -3'

Sequencing Primer
(F):5'- ATGGGTTACCTTGGCTATGTAC -3'
(R):5'- ATGTCAGGCACTACCAGTAGTTC -3'

Posted On

2015-07-07