Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Obsl1'

37486

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75479310-75506452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75492927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 1149 (G1149W)

Ref Sequence

ENSEMBL: ENSMUSP00000109197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113565] [ENSMUST00000113567]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113565

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	5e-57	PDB
Blast:IG_like	622	711	2e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113567
AA Change: G1149W

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

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: G1149W

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	8e-57	PDB
Blast:IG_like	622	711	3e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART
IG	996	1075	1.27e-5	SMART
IGc2	1094	1160	4.07e-4	SMART
IGc2	1186	1252	9.49e-5	SMART
IG	1274	1353	7.41e-7	SMART
IG	1363	1444	1.15e-3	SMART
IG	1454	1533	8.33e-1	SMART
IGc2	1549	1615	8.72e-4	SMART
IG	1633	1712	1e-3	SMART
IG	1723	1802	3.82e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127507

Predicted Effect

unknown
Transcript: ENSMUST00000132252
AA Change: G47W

SMART Domains

Protein: ENSMUSP00000117420
Gene: ENSMUSG00000026211
AA Change: G47W

Domain	Start	End	E-Value	Type
IG_like	1	59	2.8e-1	SMART
IGc2	85	151	9.49e-5	SMART
IG	175	254	2.64e-3	SMART
IG	265	344	7.41e-7	SMART
Blast:IG	354	417	4e-35	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150293

Predicted Effect

unknown
Transcript: ENSMUST00000155084
AA Change: G954W

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: G954W

Domain	Start	End	E-Value	Type
SCOP:d1g1ca_	2	32	1e-3	SMART
IGc2	64	132	1.48e-6	SMART
IG	153	233	9.49e-5	SMART
IG	241	317	1.04e-1	SMART
FN3	324	407	6.6e-2	SMART
PDB:2E6Q\|A	414	520	4e-57	PDB
Blast:IG_like	428	517	2e-50	BLAST
IG	529	610	3.79e-4	SMART
IG	620	699	2.58e-6	SMART
IGc2	717	783	1.12e-6	SMART
IG	802	881	1.27e-5	SMART
IGc2	900	966	4.07e-4	SMART
IGc2	992	1058	9.49e-5	SMART
IG	1080	1159	7.41e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156705

Meta Mutation Damage Score

0.8371

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2610507B11Rik	C	T	11: 78,271,924	L871F	possibly damaging	Het
4933430I17Rik	A	T	4: 62,546,067	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,429,379	R76*	probably null	Het
A1cf	G	A	19: 31,945,814	A505T	probably benign	Het
Abcc5	T	A	16: 20,422,400	I12F	probably damaging	Het
Abcf2	T	C	5: 24,566,564	E555G	probably damaging	Het
Acan	A	T	7: 79,100,285	E1601D	probably damaging	Het
Adam2	T	A	14: 66,037,606	K559N	probably benign	Het
Akap11	A	C	14: 78,510,089	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 122,895,568	D515G	probably benign	Het
Ankrd27	T	A	7: 35,619,371	N562K	probably damaging	Het
Atp10b	T	C	11: 43,153,304	I119T	probably benign	Het
Atr	T	C	9: 95,937,566	I2202T	probably benign	Het
BC067074	A	T	13: 113,369,143	I727F	probably damaging	Het
Brd4	T	A	17: 32,213,540		probably benign	Het
Catsperg2	C	T	7: 29,706,571	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,828,482		probably benign	Het
Cfap65	T	A	1: 74,927,071	I366F	probably damaging	Het
Cnga4	G	T	7: 105,407,668	R326L	probably damaging	Het
Cntnap5b	T	A	1: 100,072,153	M212K	probably benign	Het
Col6a6	T	A	9: 105,784,116	M265L	probably benign	Het
Cyp26b1	A	T	6: 84,574,556	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,150,746	M768K	probably benign	Het
Drc7	G	A	8: 95,071,253	R433H	possibly damaging	Het
Duox2	C	T	2: 122,292,304	V550M	probably benign	Het
Elmo2	A	G	2: 165,296,890	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,317,530	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,457,006	C785F	probably benign	Het
Gm12253	T	C	11: 58,440,012		probably benign	Het
Gnat2	T	A	3: 108,095,562	Y95*	probably null	Het
Gopc	T	C	10: 52,350,678	K220E	probably damaging	Het
Hectd4	G	A	5: 121,254,251	D193N	possibly damaging	Het
Hexa	G	A	9: 59,554,226		probably null	Het
Hspa4l	T	C	3: 40,785,408		probably benign	Het
Hspa5	T	C	2: 34,774,320	S301P	probably damaging	Het
Ice1	A	T	13: 70,604,047	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,206,054	L17P	probably damaging	Het
Itk	T	C	11: 46,353,916	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,103,460	V560A	probably damaging	Het
Lama1	A	G	17: 67,817,569	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,806,851	C32*	probably null	Het
Lcp2	T	A	11: 34,069,854		probably benign	Het
Lhx9	C	T	1: 138,832,904	G236D	probably benign	Het
Lrrc38	A	T	4: 143,350,409	I81F	probably damaging	Het
Ly6a	C	T	15: 74,995,387	V94M	probably benign	Het
Map3k13	A	G	16: 21,914,157	E503G	probably damaging	Het
Mertk	T	C	2: 128,782,621		probably benign	Het
Mkl2	T	A	16: 13,412,163	I915N	probably damaging	Het
Msantd2	G	A	9: 37,523,219	D252N	possibly damaging	Het
Mtmr12	T	A	15: 12,257,706	L290*	probably null	Het
Myo3a	T	C	2: 22,245,598	I92T	probably benign	Het
Naglu	T	A	11: 101,074,027	N313K	probably damaging	Het
Nceh1	T	C	3: 27,222,804	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,250,883	T47A	probably damaging	Het
Nrp1	T	A	8: 128,460,683	F403L	probably damaging	Het
Nxph3	T	C	11: 95,511,256	T111A	possibly damaging	Het
Obscn	T	A	11: 59,038,615	E6061V	probably damaging	Het
Olfr1162	C	T	2: 88,050,412	V71I	possibly damaging	Het
Olfr1370	T	A	13: 21,072,374	Y309F	probably benign	Het
Olfr1487	A	G	19: 13,619,485	T65A	probably benign	Het
Olfr267	A	T	4: 58,784,981	V247E	probably damaging	Het
Olfr292	A	G	7: 86,694,860	T135A	probably benign	Het
Olfr493	A	C	7: 108,346,914	D22E	probably benign	Het
Olfr814	T	A	10: 129,874,546	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,455,106	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,205,821		probably null	Het
Plvap	T	C	8: 71,511,382	N112S	probably damaging	Het
Pop1	T	A	15: 34,529,858		probably null	Het
Ppip5k2	T	C	1: 97,716,553	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,573,392	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,457,042	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,674,605	T565A	probably benign	Het
Rbm15	C	A	3: 107,331,155	R642S	probably damaging	Het
Rpsa	G	A	9: 120,131,003	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,686,810	S3303P	probably damaging	Het
Scg2	T	A	1: 79,435,512	N458I	possibly damaging	Het
Setx	A	G	2: 29,179,643	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,267,567		probably benign	Het
Slc8a2	T	A	7: 16,140,989	D387E	probably benign	Het
Smarcc2	A	G	10: 128,474,722	T407A	probably benign	Het
Snap25	A	G	2: 136,777,464	D179G	probably damaging	Het
Socs4	T	C	14: 47,289,868	S74P	probably benign	Het
Sp6	T	A	11: 97,021,925	Y155N	probably benign	Het
Srrt	C	T	5: 137,296,127		probably benign	Het
Steap1	C	T	5: 5,736,431	M335I	probably benign	Het
Stra6	A	T	9: 58,145,489	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582	S1421P	probably damaging	Het
Tcea3	G	A	4: 136,271,366	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,737,704	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,270,237	K89E	probably damaging	Het
Trp63	T	A	16: 25,764,302		probably benign	Het
Ube2d2a	A	G	18: 35,800,132	Y74C	probably damaging	Het
Usp19	T	G	9: 108,498,509	F885V	probably damaging	Het
Utp18	T	A	11: 93,882,177		probably benign	Het
Vmn2r116	T	C	17: 23,401,413	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Zfp318	C	T	17: 46,412,614	P1848S	probably benign	Het
Zfp984	G	T	4: 147,755,265	N376K	probably benign	Het

Other mutations in Obsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Obsl1	APN	1	75490874	missense	probably benign	0.02
IGL01111:Obsl1	APN	1	75497145	missense	possibly damaging	0.62
IGL01140:Obsl1	APN	1	75489756	unclassified	probably benign
IGL02149:Obsl1	APN	1	75503820	missense	probably damaging	1.00
IGL02225:Obsl1	APN	1	75503798	missense	probably damaging	0.99
IGL02269:Obsl1	APN	1	75487713	missense	probably damaging	0.97
IGL02296:Obsl1	APN	1	75498149	missense	possibly damaging	0.94
IGL02386:Obsl1	APN	1	75492517	missense	probably damaging	1.00
IGL02408:Obsl1	APN	1	75505246	missense	probably damaging	0.98
IGL02601:Obsl1	APN	1	75489620	missense	probably benign
IGL03053:Obsl1	APN	1	75493079	missense	probably benign
IGL03181:Obsl1	APN	1	75492584	missense	probably benign	0.00
IGL03402:Obsl1	APN	1	75486799	missense	probably benign	0.00
Jude	UTSW	1	75498233	missense	probably damaging	1.00
PIT1430001:Obsl1	UTSW	1	75506167	missense	probably damaging	1.00
PIT4382001:Obsl1	UTSW	1	75487963	missense	probably benign	0.06
R1343:Obsl1	UTSW	1	75492579	missense	probably damaging	1.00
R1394:Obsl1	UTSW	1	75492665	missense	probably damaging	0.96
R1395:Obsl1	UTSW	1	75492665	missense	probably damaging	0.96
R1439:Obsl1	UTSW	1	75486784	nonsense	probably null
R1456:Obsl1	UTSW	1	75487656	nonsense	probably null
R1728:Obsl1	UTSW	1	75486756	missense	probably benign
R1729:Obsl1	UTSW	1	75486756	missense	probably benign
R1730:Obsl1	UTSW	1	75486756	missense	probably benign
R1739:Obsl1	UTSW	1	75486756	missense	probably benign
R1757:Obsl1	UTSW	1	75493883	missense	probably benign
R1762:Obsl1	UTSW	1	75486756	missense	probably benign
R1783:Obsl1	UTSW	1	75486756	missense	probably benign
R1784:Obsl1	UTSW	1	75486756	missense	probably benign
R1785:Obsl1	UTSW	1	75486756	missense	probably benign
R1851:Obsl1	UTSW	1	75492893	missense	probably damaging	1.00
R1864:Obsl1	UTSW	1	75493109	missense	probably benign	0.01
R1873:Obsl1	UTSW	1	75498233	missense	probably damaging	1.00
R1875:Obsl1	UTSW	1	75498233	missense	probably damaging	1.00
R1980:Obsl1	UTSW	1	75505836	missense	probably damaging	1.00
R1985:Obsl1	UTSW	1	75505600	missense	probably damaging	1.00
R2049:Obsl1	UTSW	1	75486756	missense	probably benign
R2069:Obsl1	UTSW	1	75486756	missense	probably benign
R2122:Obsl1	UTSW	1	75493883	missense	probably benign
R2141:Obsl1	UTSW	1	75486756	missense	probably benign
R2142:Obsl1	UTSW	1	75486756	missense	probably benign
R2184:Obsl1	UTSW	1	75502217	missense	probably benign	0.26
R2267:Obsl1	UTSW	1	75505698	missense	probably damaging	1.00
R2883:Obsl1	UTSW	1	75496511	missense	possibly damaging	0.73
R3079:Obsl1	UTSW	1	75490823	missense	probably damaging	1.00
R3749:Obsl1	UTSW	1	75498246	missense	probably benign
R4002:Obsl1	UTSW	1	75500099	missense	possibly damaging	0.90
R4365:Obsl1	UTSW	1	75488049	missense	possibly damaging	0.91
R4366:Obsl1	UTSW	1	75488049	missense	possibly damaging	0.91
R4414:Obsl1	UTSW	1	75490902	missense	probably benign	0.00
R4700:Obsl1	UTSW	1	75503441	missense	probably damaging	1.00
R4799:Obsl1	UTSW	1	75489501	missense	possibly damaging	0.93
R5081:Obsl1	UTSW	1	75487963	missense	possibly damaging	0.49
R5389:Obsl1	UTSW	1	75503261	intron	probably benign
R5757:Obsl1	UTSW	1	75493055	missense	probably damaging	0.98
R5890:Obsl1	UTSW	1	75493859	missense	probably damaging	1.00
R5946:Obsl1	UTSW	1	75491207	missense	probably damaging	0.96
R6005:Obsl1	UTSW	1	75492215	splice site	probably null
R6118:Obsl1	UTSW	1	75492078	intron	probably benign
R6154:Obsl1	UTSW	1	75500144	missense	probably benign	0.19
R6317:Obsl1	UTSW	1	75489629	missense	possibly damaging	0.50
R6379:Obsl1	UTSW	1	75503143	missense	probably damaging	1.00
R6387:Obsl1	UTSW	1	75491362	missense	probably benign	0.03
R7084:Obsl1	UTSW	1	75487750	missense	probably benign
R7123:Obsl1	UTSW	1	75489669	missense	probably damaging	1.00
R7202:Obsl1	UTSW	1	75489716	missense	possibly damaging	0.94
R7291:Obsl1	UTSW	1	75489517	missense	probably damaging	0.98
R7305:Obsl1	UTSW	1	75493946	nonsense	probably null
R7366:Obsl1	UTSW	1	75502964	missense	probably damaging	1.00
R7402:Obsl1	UTSW	1	75487704	missense	probably benign
R7474:Obsl1	UTSW	1	75498184	missense	probably benign	0.00
R7611:Obsl1	UTSW	1	75505380	missense	probably damaging	0.96
R7672:Obsl1	UTSW	1	75492721	missense	probably benign	0.18
R7715:Obsl1	UTSW	1	75502036	missense	probably damaging	0.99
R7762:Obsl1	UTSW	1	75503523	missense	probably benign
R8005:Obsl1	UTSW	1	75505452	missense	probably damaging	1.00
R8012:Obsl1	UTSW	1	75492673	missense	probably benign	0.12
R8379:Obsl1	UTSW	1	75503857	missense	possibly damaging	0.92
R8381:Obsl1	UTSW	1	75503857	missense	possibly damaging	0.92
R8383:Obsl1	UTSW	1	75503857	missense	possibly damaging	0.92
R8396:Obsl1	UTSW	1	75503706	missense	probably benign	0.01
R8465:Obsl1	UTSW	1	75503388	missense	probably damaging	1.00
R8506:Obsl1	UTSW	1	75505656	missense	probably benign	0.00
R8710:Obsl1	UTSW	1	75492682	missense	probably benign
R8877:Obsl1	UTSW	1	75496523	nonsense	probably null
R8903:Obsl1	UTSW	1	75487273	missense	possibly damaging	0.65
R8913:Obsl1	UTSW	1	75491248	missense	probably benign	0.00
R8924:Obsl1	UTSW	1	75506197	missense	probably benign	0.00
R8955:Obsl1	UTSW	1	75503849	missense	probably damaging	1.00
R9008:Obsl1	UTSW	1	75505383	missense	probably benign
R9121:Obsl1	UTSW	1	75505992	missense	possibly damaging	0.93
R9295:Obsl1	UTSW	1	75500077	missense	probably damaging	1.00
R9362:Obsl1	UTSW	1	75505747	missense	probably benign	0.01
R9367:Obsl1	UTSW	1	75489533	missense	probably benign	0.18
R9459:Obsl1	UTSW	1	75498240	missense	probably benign	0.16
R9496:Obsl1	UTSW	1	75490840	missense	probably damaging	1.00
R9497:Obsl1	UTSW	1	75490840	missense	probably damaging	1.00
R9498:Obsl1	UTSW	1	75490840	missense	probably damaging	1.00
R9502:Obsl1	UTSW	1	75489623	missense	probably damaging	0.98
R9546:Obsl1	UTSW	1	75505386	missense	probably damaging	0.98
R9550:Obsl1	UTSW	1	75498266	missense	possibly damaging	0.95
R9561:Obsl1	UTSW	1	75503513	missense	possibly damaging	0.86
R9687:Obsl1	UTSW	1	75503026	missense	probably damaging	1.00
V8831:Obsl1	UTSW	1	75486756	missense	probably benign
X0061:Obsl1	UTSW	1	75486768	missense	probably benign
Z1088:Obsl1	UTSW	1	75486756	missense	probably benign
Z1176:Obsl1	UTSW	1	75486756	missense	probably benign
Z1177:Obsl1	UTSW	1	75486756	missense	probably benign
Z1177:Obsl1	UTSW	1	75491012	missense	possibly damaging	0.95
Z1177:Obsl1	UTSW	1	75503792	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACACTTGTGCGCTTGCTCG -3'
(R):5'- CAGGGAGAGACCATCTGTCAAAACC -3'

Sequencing Primer
(F):5'- TTGCTCGGGACAGCTCAC -3'
(R):5'- TCCACCAGAAAGGATTGTGC -3'

Posted On

2013-05-23