Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Obsl1'

728885

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75479310-75506452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75503026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 575 (V575A)

Ref Sequence

ENSEMBL: ENSMUSP00000109197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037330] [ENSMUST00000113565] [ENSMUST00000113567]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037330

SMART Domains

Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	189	199	N/A	INTRINSIC
TGFB	263	366	1.58e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113565
AA Change: V575A

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

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: V575A

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: V575A

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

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: V575A

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

possibly damaging
Transcript: ENSMUST00000155084
AA Change: V380A

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: V380A

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Akna	A	T	4: 63,374,437	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758	V163G	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
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
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
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'- GTCACGGAGAGCATGACTGG -3'
(R):5'- TGTACAAGGCTCAGGTGAAG -3'

Sequencing Primer
(F):5'- GCATGACTGGATAAAGATACTGATG -3'
(R):5'- GTGAAGATCCCACCTTTATCTTAGG -3'

Posted On

2022-10-06