Mutagenetix > Incidental Mutation

Incidental Mutation 'R1610:Cobll1'

176710

Institutional Source

Beutler Lab

Gene Symbol

Cobll1

Ensembl Gene

ENSMUSG00000034903

Gene Name

Cobl-like 1

Synonyms

D430044D16Rik, Coblr1

MMRRC Submission

039647-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R1610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65088339-65239403 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65133642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 211 (D211N)

Ref Sequence

ENSEMBL: ENSMUSP00000108049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431] [ENSMUST00000155082] [ENSMUST00000155916] [ENSMUST00000156643]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090896
AA Change: D212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: D212N

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	1.3e-38	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC
low complexity region	1023	1034	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102726
AA Change: D212N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: D212N

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	5.6e-39	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1060	1071	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112429
AA Change: D212N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: D212N

Domain	Start	End	E-Value	Type
Pfam:Cobl	148	239	5.4e-49	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1061	1072	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112430
AA Change: D211N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: D211N

Domain	Start	End	E-Value	Type
low complexity region	146	157	N/A	INTRINSIC
Pfam:Cobl	185	263	1.3e-38	PFAM
low complexity region	331	342	N/A	INTRINSIC
low complexity region	425	437	N/A	INTRINSIC
low complexity region	1022	1033	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112431
AA Change: D212N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: D212N

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	5.6e-39	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1061	1072	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132478

Predicted Effect

probably benign
Transcript: ENSMUST00000155082

SMART Domains

Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903

Domain	Start	End	E-Value	Type
SCOP:d1ijha1	2	74	3e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000155916
AA Change: D232N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: D232N

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
Pfam:Cobl	206	297	2.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156643

SMART Domains

Protein: ENSMUSP00000114447
Gene: ENSMUSG00000034903

Domain	Start	End	E-Value	Type
low complexity region	124	135	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	G	T	6: 96,165,289	P258Q	probably damaging	Het
4930452B06Rik	G	T	14: 8,511,110	H435N	probably benign	Het
Acbd5	G	A	2: 23,090,551	C312Y	probably damaging	Het
Adgrl1	T	A	8: 83,932,373	M601K	probably benign	Het
Agbl4	G	A	4: 111,657,168	E459K	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Casz1	C	T	4: 148,929,087	A36V	possibly damaging	Het
Chpf	A	G	1: 75,476,648	V327A	probably damaging	Het
Cldn23	A	G	8: 35,825,930	Y135H	probably damaging	Het
Cramp1l	A	G	17: 24,983,951	V368A	probably benign	Het
Dnah6	T	C	6: 73,144,963	T1374A	probably benign	Het
Dpyd	A	G	3: 119,065,006	H623R	probably benign	Het
Dyrk2	T	C	10: 118,859,925	N476S	probably benign	Het
Endog	A	T	2: 30,173,887	I267F	probably damaging	Het
Ephb6	A	T	6: 41,614,373	K155*	probably null	Het
Far2	T	C	6: 148,157,458	V214A	possibly damaging	Het
Fat2	A	G	11: 55,278,924	V3003A	probably damaging	Het
Frg2f1	T	A	4: 119,531,288	T5S	possibly damaging	Het
Gm14496	A	T	2: 181,996,179	T349S	probably benign	Het
Golgb1	A	G	16: 36,926,101	T2951A	probably benign	Het
Hc	G	T	2: 35,006,161	D1203E	probably benign	Het
Isg20	C	A	7: 78,914,509	Q55K	possibly damaging	Het
Jph4	G	T	14: 55,114,103	A152E	probably damaging	Het
Kcnq3	T	C	15: 66,025,260	T264A	probably damaging	Het
Kcnq5	T	G	1: 21,457,461	T463P	probably damaging	Het
Klra8	A	G	6: 130,119,018	S204P	probably damaging	Het
Ldlrad1	A	G	4: 107,214,875	D98G	probably damaging	Het
Lhfpl4	T	C	6: 113,194,136	T30A	possibly damaging	Het
Lig1	T	A	7: 13,285,340	L80Q	probably damaging	Het
Lmbrd2	A	G	15: 9,186,612	Y558C	probably benign	Het
Lrrn3	G	T	12: 41,452,993	L442I	possibly damaging	Het
Mc2r	A	G	18: 68,407,448	F258S	probably damaging	Het
Mmp16	A	G	4: 18,011,582	T137A	probably benign	Het
Nfatc2ip	A	T	7: 126,387,407	S359T	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1193	A	T	2: 88,678,574	K233*	probably null	Het
Olfr1229	T	C	2: 89,282,821	H104R	probably damaging	Het
Olfr514	T	A	7: 108,825,924	H25L	probably benign	Het
Olfr904	C	T	9: 38,464,631	L197F	probably damaging	Het
Plagl1	C	T	10: 13,128,962		probably benign	Het
Plxnb2	A	T	15: 89,158,493	S1531T	probably damaging	Het
Ptpn22	G	A	3: 103,902,196		probably null	Het
Rtn1	T	A	12: 72,219,279	Q174L	possibly damaging	Het
Selenoo	A	G	15: 89,099,916	E645G	probably benign	Het
Serpina1a	A	C	12: 103,853,837	D383E	possibly damaging	Het
Slc6a18	T	A	13: 73,668,225	Y345F	probably benign	Het
Smbd1	A	G	16: 32,806,765	V51A	possibly damaging	Het
Tchh	C	T	3: 93,444,839	R529W	unknown	Het
Tmem206	A	G	1: 191,345,065	D195G	probably benign	Het
Tonsl	A	T	15: 76,638,557	Y165N	probably damaging	Het
Trdmt1	G	A	2: 13,516,059	T344I	probably damaging	Het
Ubash3b	C	A	9: 41,043,500	R116L	probably damaging	Het
Vmn2r94	A	G	17: 18,243,733	V765A	probably damaging	Het
Zfp474	C	T	18: 52,638,365	T30I	probably benign	Het

Other mutations in Cobll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Cobll1	APN	2	65126013	missense	probably damaging	1.00
IGL01074:Cobll1	APN	2	65107848	missense	probably damaging	1.00
IGL01093:Cobll1	APN	2	65098237	missense	probably damaging	1.00
IGL02411:Cobll1	APN	2	65097740	missense	probably damaging	1.00
IGL02419:Cobll1	APN	2	65151048	missense	probably damaging	1.00
IGL02550:Cobll1	APN	2	65107863	missense	probably damaging	1.00
IGL02607:Cobll1	APN	2	65151085	missense	probably damaging	0.98
IGL02829:Cobll1	APN	2	65126045	missense	probably damaging	1.00
IGL02802:Cobll1	UTSW	2	65098319	missense	probably damaging	0.99
R0313:Cobll1	UTSW	2	65095744	nonsense	probably null
R0314:Cobll1	UTSW	2	65089521	missense	possibly damaging	0.81
R0322:Cobll1	UTSW	2	65102098	missense	possibly damaging	0.84
R0846:Cobll1	UTSW	2	65102065	splice site	probably null
R1163:Cobll1	UTSW	2	65098279	missense	probably damaging	0.96
R1242:Cobll1	UTSW	2	65151169	critical splice acceptor site	probably null
R1364:Cobll1	UTSW	2	65126310	splice site	probably benign
R1445:Cobll1	UTSW	2	65099136	missense	probably damaging	1.00
R1836:Cobll1	UTSW	2	65126236	missense	probably damaging	1.00
R2102:Cobll1	UTSW	2	65098210	missense	probably damaging	1.00
R3154:Cobll1	UTSW	2	65107050	missense	probably benign	0.00
R4580:Cobll1	UTSW	2	65151073	missense	probably benign	0.00
R4638:Cobll1	UTSW	2	65099237	missense	probably benign	0.03
R4684:Cobll1	UTSW	2	65099028	missense	possibly damaging	0.90
R4906:Cobll1	UTSW	2	65097693	missense	probably benign	0.01
R4923:Cobll1	UTSW	2	65099258	missense	possibly damaging	0.87
R5100:Cobll1	UTSW	2	65125901	missense	probably benign	0.26
R5269:Cobll1	UTSW	2	65133771	nonsense	probably null
R5419:Cobll1	UTSW	2	65103357	missense	possibly damaging	0.57
R5637:Cobll1	UTSW	2	65125903	missense	possibly damaging	0.90
R5745:Cobll1	UTSW	2	65098457	missense	probably damaging	0.99
R5777:Cobll1	UTSW	2	65103268	missense	probably benign	0.27
R6303:Cobll1	UTSW	2	65098033	missense	possibly damaging	0.68
R6471:Cobll1	UTSW	2	65107884	missense	probably damaging	1.00
R7027:Cobll1	UTSW	2	65089503	missense	probably benign	0.00
R7132:Cobll1	UTSW	2	65133768	missense	probably damaging	1.00
R7197:Cobll1	UTSW	2	65098538	missense	probably benign	0.00
R7365:Cobll1	UTSW	2	65098373	missense	probably damaging	0.99
R7607:Cobll1	UTSW	2	65095857	missense	probably benign	0.02
R7899:Cobll1	UTSW	2	65125931	missense	probably damaging	1.00
R7996:Cobll1	UTSW	2	65150985	missense	possibly damaging	0.93
R8175:Cobll1	UTSW	2	65099231	missense	probably benign
R8212:Cobll1	UTSW	2	65102080	missense	probably benign	0.08
R8549:Cobll1	UTSW	2	65098450	missense	probably damaging	1.00
R8832:Cobll1	UTSW	2	65099258	missense	probably damaging	1.00
R9189:Cobll1	UTSW	2	65150989	missense	probably damaging	1.00
R9253:Cobll1	UTSW	2	65151159	missense	probably benign	0.10
R9273:Cobll1	UTSW	2	65099012	missense	probably damaging	1.00
R9309:Cobll1	UTSW	2	65125927	missense	probably damaging	0.96
R9332:Cobll1	UTSW	2	65103172	missense	probably benign
R9469:Cobll1	UTSW	2	65136430	missense	probably damaging	1.00
X0020:Cobll1	UTSW	2	65103322	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAGATGGGCATCCTGATGAGAC -3'
(R):5'- CATGTGCCACAGAATCGAGAGTCG -3'

Sequencing Primer
(F):5'- cctgatgagaccccatcataaaaaTG -3'
(R):5'- AATCGAGAGTCGGTTATTCTAGGTG -3'

Posted On

2014-04-24