Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Obsl1'

714735

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75479310-75506452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75498240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 839 (H839N)

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
AA Change: H839N

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: H839N

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 benign
Transcript: ENSMUST00000113567
AA Change: H839N

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: H839N

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

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: H644N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	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
R0281:Obsl1	UTSW	1	75492927	missense	probably damaging	1.00
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
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'- AGCTGCTCTCACCTGTGATG -3'
(R):5'- CCAAACTCCTGCATGGCATG -3'

Sequencing Primer
(F):5'- CTCACCTGTGATGGTAACTGTGAAG -3'
(R):5'- GCATGGCATGGCTTTAATTACC -3'

Posted On

2022-06-15