Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02752:Bod1l'

304217

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bod1l

Ensembl Gene

ENSMUSG00000061755

Gene Name

biorientation of chromosomes in cell division 1-like

Synonyms

A230054D04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02752

Quality Score

Status

Chromosome

Chromosomal Location

41944881-42001658 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41973806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2503 (T2503A)

Ref Sequence

ENSEMBL: ENSMUSP00000144359 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050556
AA Change: T2503A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058618
Gene: ENSMUSG00000061755
AA Change: T2503A

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

possibly damaging
Transcript: ENSMUST00000202908
AA Change: T2503A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144359
Gene: ENSMUSG00000061755
AA Change: T2503A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	A	15: 84,840,042 (GRCm39)	E145*	probably null	Het
Abca9	A	G	11: 110,018,194 (GRCm39)	F1142S	probably damaging	Het
Bpi	A	G	2: 158,104,344 (GRCm39)	D149G	probably damaging	Het
Cntnap5a	A	G	1: 116,508,261 (GRCm39)	T1258A	probably benign	Het
Col4a3	A	G	1: 82,637,946 (GRCm39)	D256G	unknown	Het
Cul5	T	C	9: 53,546,278 (GRCm39)	T338A	probably damaging	Het
Efs	A	G	14: 55,154,880 (GRCm39)	V453A	probably damaging	Het
Fbxw19	T	A	9: 109,323,709 (GRCm39)	N89Y	probably benign	Het
Fbxw8	A	G	5: 118,280,815 (GRCm39)	F114S	probably damaging	Het
Flnb	A	G	14: 7,917,338 (GRCm38)	I1606V	probably benign	Het
Gpr158	A	G	2: 21,831,638 (GRCm39)	T913A	possibly damaging	Het
Gtf2f1	A	T	17: 57,316,682 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,387,678 (GRCm39)	*1059L	probably null	Het
Hmgb4	T	C	4: 128,154,134 (GRCm39)	K145E	probably damaging	Het
Igf2bp2	T	A	16: 21,898,860 (GRCm39)	M250L	probably benign	Het
Igkv14-111	A	G	6: 68,233,561 (GRCm39)	K21E	probably benign	Het
Il6st	C	T	13: 112,616,729 (GRCm39)	T92I	probably damaging	Het
Jak3	G	T	8: 72,135,595 (GRCm39)	V581L	possibly damaging	Het
Kank2	C	T	9: 21,706,329 (GRCm39)	V230M	probably damaging	Het
Kif1a	G	A	1: 92,967,569 (GRCm39)	A1123V	possibly damaging	Het
Kpna4	T	A	3: 69,002,863 (GRCm39)	R125*	probably null	Het
Mybpc3	A	T	2: 90,962,982 (GRCm39)		probably null	Het
Ntn4	T	C	10: 93,546,421 (GRCm39)	V358A	possibly damaging	Het
Pacsin1	A	T	17: 27,921,672 (GRCm39)		probably null	Het
Pcsk2	A	G	2: 143,615,865 (GRCm39)	N221S	probably benign	Het
Pik3cg	A	G	12: 32,254,262 (GRCm39)	L575P	probably damaging	Het
Pkhd1	A	T	1: 20,623,815 (GRCm39)	V760E	possibly damaging	Het
Plxnc1	T	C	10: 94,630,542 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,073,341 (GRCm39)	T217A	probably benign	Het
Rictor	A	G	15: 6,816,852 (GRCm39)	T1375A	probably benign	Het
Scn1a	A	G	2: 66,161,756 (GRCm39)	I264T	probably damaging	Het
Sez6l2	T	C	7: 126,552,905 (GRCm39)	S164P	probably damaging	Het
Slc31a1	C	T	4: 62,303,869 (GRCm39)		probably benign	Het
Slc45a1	T	C	4: 150,722,478 (GRCm39)	N469D	probably benign	Het
Slco1a5	T	C	6: 142,208,438 (GRCm39)	T76A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stfa3	G	A	16: 36,270,999 (GRCm39)	T95I	probably damaging	Het
Stk11ip	A	C	1: 75,501,325 (GRCm39)		probably null	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Traf1	A	G	2: 34,848,020 (GRCm39)	S25P	probably benign	Het
Ttn	G	T	2: 76,622,125 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,798,283 (GRCm39)	I2041N	probably damaging	Het
Zfp512b	A	T	2: 181,229,864 (GRCm39)	D556E	possibly damaging	Het
Zfpm2	T	A	15: 40,965,415 (GRCm39)	D633E	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
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
R4414:Bod1l	UTSW	5	41,977,870 (GRCm39)	missense	probably benign	0.04
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

Posted On

2015-04-16