Mutagenetix > Incidental Mutation

Incidental Mutation 'R5991:Bod1l'

482007

Institutional Source

Beutler Lab

Gene Symbol

Bod1l

Ensembl Gene

ENSMUSG00000061755

Gene Name

biorientation of chromosomes in cell division 1-like

Synonyms

A230054D04Rik

MMRRC Submission

044171-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R5991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41944881-42001658 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 41974206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 2369 (C2369*)

Ref Sequence

ENSEMBL: ENSMUSP00000144359 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050556
AA Change: C2369*

SMART Domains

Protein: ENSMUSP00000058618
Gene: ENSMUSG00000061755
AA Change: C2369*

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

probably null
Transcript: ENSMUST00000202908
AA Change: C2369*

SMART Domains

Protein: ENSMUSP00000144359
Gene: ENSMUSG00000061755
AA Change: C2369*

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

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	A	8: 111,777,032 (GRCm39)	R683Q	probably damaging	Het
Adam8	T	A	7: 139,570,200 (GRCm39)	H69L	probably damaging	Het
Bbs2	G	T	8: 94,824,914 (GRCm39)	R23S	probably benign	Het
Capn11	G	T	17: 45,970,278 (GRCm39)		probably null	Het
Carmil2	A	G	8: 106,418,023 (GRCm39)	Q679R	probably null	Het
Cep120	T	C	18: 53,854,870 (GRCm39)	I422V	probably benign	Het
Cnot7	A	C	8: 40,948,696 (GRCm39)		probably null	Het
Col1a1	T	C	11: 94,828,745 (GRCm39)	V29A	unknown	Het
Dnttip1	A	T	2: 164,596,100 (GRCm39)	Q115L	possibly damaging	Het
Dyrk4	A	G	6: 126,857,188 (GRCm39)	V497A	probably benign	Het
Ep300	A	G	15: 81,532,667 (GRCm39)	D1635G	unknown	Het
Ercc5	T	A	1: 44,219,990 (GRCm39)	C1087*	probably null	Het
Fap	A	T	2: 62,348,865 (GRCm39)	M517K	probably damaging	Het
Focad	C	A	4: 88,319,256 (GRCm39)	D1574E	possibly damaging	Het
Fsip2	C	T	2: 82,820,812 (GRCm39)	P5515L	probably benign	Het
Gpr158	T	C	2: 21,373,319 (GRCm39)	Y85H	probably damaging	Het
Hc	A	G	2: 34,896,117 (GRCm39)	V1222A	possibly damaging	Het
Hipk3	C	T	2: 104,268,328 (GRCm39)	M546I	probably damaging	Het
Jup	T	C	11: 100,270,395 (GRCm39)	N371D	possibly damaging	Het
Ltbp4	A	G	7: 27,008,741 (GRCm39)	Y1262H	probably damaging	Het
Lyar	A	G	5: 38,385,209 (GRCm39)	E83G	probably damaging	Het
Lyg2	C	T	1: 37,954,800 (GRCm39)		probably null	Het
Mtmr11	T	A	3: 96,075,905 (GRCm39)		probably null	Het
Myct1	A	T	10: 5,554,426 (GRCm39)	R98*	probably null	Het
Nol11	T	C	11: 107,061,971 (GRCm39)	T612A	probably benign	Het
Or2l5	T	C	16: 19,333,507 (GRCm39)	N293S	probably damaging	Het
Or4b1d	T	A	2: 89,968,578 (GRCm39)	K302*	probably null	Het
Or4c113	C	T	2: 88,885,126 (GRCm39)	V215I	probably benign	Het
Or4f61	C	T	2: 111,922,960 (GRCm39)	V29M	probably benign	Het
Or5m9	A	G	2: 85,877,254 (GRCm39)	I143V	probably benign	Het
Parp14	G	A	16: 35,661,827 (GRCm39)	P1403S	probably benign	Het
Pcdhb3	T	C	18: 37,434,561 (GRCm39)	S176P	probably benign	Het
Pdcd1lg2	C	T	19: 29,431,867 (GRCm39)	R212W	probably benign	Het
Plin3	T	C	17: 56,593,576 (GRCm39)	Y46C	probably damaging	Het
Rfx7	G	A	9: 72,526,820 (GRCm39)	E1337K	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr1	G	T	7: 28,804,035 (GRCm39)	N584K	probably damaging	Het
Scmh1	T	C	4: 120,379,817 (GRCm39)	V544A	probably benign	Het
Sdk2	G	A	11: 113,834,080 (GRCm39)	T34M	probably damaging	Het
Serpinb9e	T	A	13: 33,443,790 (GRCm39)	L270H	probably damaging	Het
Shoc2	T	A	19: 53,991,480 (GRCm39)	N248K	probably damaging	Het
Sirpd	G	T	3: 15,385,818 (GRCm39)	A28E	probably benign	Het
Slc25a4	T	C	8: 46,662,373 (GRCm39)	Y95C	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,413 (GRCm39)	N403S	possibly damaging	Het
Spink10	T	A	18: 62,790,956 (GRCm39)	W7R	probably null	Het
Ssrp1	A	G	2: 84,872,640 (GRCm39)	K426R	possibly damaging	Het
Tbc1d24	G	A	17: 24,428,043 (GRCm39)		probably benign	Het
Tead3	A	T	17: 28,553,352 (GRCm39)		probably null	Het
Timd4	A	G	11: 46,734,030 (GRCm39)	*344W	probably null	Het
Tmem181a	T	A	17: 6,339,312 (GRCm39)	W115R	probably damaging	Het
Tmem245	G	A	4: 56,916,733 (GRCm39)	T65I	probably damaging	Het
Vmn1r12	G	C	6: 57,136,640 (GRCm39)	V202L	probably damaging	Het
Vmn1r80	A	G	7: 11,927,423 (GRCm39)	T178A	probably benign	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zmym6	T	A	4: 127,002,266 (GRCm39)		probably null	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
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
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'- AGTGAGTTGGCATTCCTCTCTG -3'
(R):5'- ACGTGCACTAGCCTAAGCAG -3'

Sequencing Primer
(F):5'- GAGTTGGCATTCCTCTCTGAGTCC -3'
(R):5'- CCTAAGCAGGCATGAAGAGAATC -3'

Posted On

2017-06-26