Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Obsl1'

554663

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4382001 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

75479310-75506452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75487963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1605 (T1605S)

Ref Sequence

ENSEMBL: ENSMUSP00000109197 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050899] [ENSMUST00000113567] [ENSMUST00000113575]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050899

SMART Domains

Protein: ENSMUSP00000057865
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	40	236	7.2e-51	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113567
AA Change: T1605S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: T1605S

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

probably benign
Transcript: ENSMUST00000113575

SMART Domains

Protein: ENSMUSP00000109205
Gene: ENSMUSG00000051703

Domain	Start	End	E-Value	Type
Pfam:DUF4203	39	237	2.2e-59	PFAM
low complexity region	252	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132252

SMART Domains

Protein: ENSMUSP00000117420
Gene: ENSMUSG00000026211

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

probably benign
Transcript: ENSMUST00000155084

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 137,376,982	H144N	unknown	Het
Acsm4	C	T	7: 119,698,575	T145M	probably damaging	Het
Adam10	T	C	9: 70,766,081	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,817,298	L430P		Het
Alk	T	C	17: 71,949,921	M648V	probably benign	Het
Arhgap35	T	C	7: 16,563,869	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,278,670	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,590,856	V16M	probably damaging	Het
Chil3	T	G	3: 106,148,659	D366A	probably damaging	Het
Chuk	A	G	19: 44,098,607	V151A	probably damaging	Het
Cpd	T	G	11: 76,797,788	H886P	probably benign	Het
Cped1	T	A	6: 22,222,450	C736*	probably null	Het
Creb3l3	T	C	10: 81,084,912	E428G	probably benign	Het
Csad	G	A	15: 102,188,650	L7F	probably benign	Het
Dnah1	C	T	14: 31,284,455	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,892,686	Y159H	probably damaging	Het
Dpysl4	T	A	7: 139,089,578	Y57*	probably null	Het
F2rl1	T	G	13: 95,513,646	N243H	probably benign	Het
Fhl4	T	C	10: 85,098,429	K163E	possibly damaging	Het
Flot2	T	C	11: 78,053,367	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,990,852	T5643K	possibly damaging	Het
Gm853	A	T	4: 130,219,161	N147K	possibly damaging	Het
Gm8765	A	T	13: 50,700,971	E215V	probably damaging	Het
Golga4	T	A	9: 118,553,453	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,469,077	T426A	probably benign	Het
Kdm2a	T	A	19: 4,343,173	M385L	probably benign	Het
Kdm3b	T	C	18: 34,809,087	S744P	probably damaging	Het
Krtap6-3	T	A	16: 89,084,160	Y26*	probably null	Het
Lama2	T	C	10: 27,204,905	D974G	probably damaging	Het
Lipo5	A	T	19: 33,465,939	L159Q	probably null	Het
Mau2	C	T	8: 70,030,652	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,447,829	L236P	probably benign	Het
Mta1	A	G	12: 113,133,250	T564A	probably benign	Het
Mylk	C	T	16: 34,875,642	S249L	probably damaging	Het
Ncor1	G	T	11: 62,344,663	T331K	probably damaging	Het
Nsun3	T	A	16: 62,785,865	K15N	probably damaging	Het
Nsun5	A	G	5: 135,371,501	Y132C	probably benign	Het
Olfr1463	T	C	19: 13,234,895	I215T	probably damaging	Het
Olfr519	A	G	7: 108,894,102	Y107H	probably damaging	Het
Olfr566	A	G	7: 102,856,602	Y227H	probably damaging	Het
Olfr574	A	T	7: 102,949,449	Y328F	probably benign	Het
Oraov1	T	A	7: 144,916,444	Y37N	probably damaging	Het
P2rx1	A	G	11: 73,009,200	N148D	probably benign	Het
Pogz	T	A	3: 94,879,796	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,684,185	T655N	probably damaging	Het
Prss34	T	C	17: 25,298,908		probably null	Het
Rhpn2	A	G	7: 35,390,753		probably null	Het
Runx1	T	A	16: 92,613,760	D256V	probably damaging	Het
Shc1	C	A	3: 89,427,408	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,335,447	D51G	probably benign	Het
Slc6a3	A	T	13: 73,571,523	N557I	probably benign	Het
Slmap	C	T	14: 26,533,431	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,036,171	I509T	probably benign	Het
Srr	C	A	11: 74,910,308	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,786	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,624,366	*920K	probably null	Het
Tenm2	T	A	11: 36,063,902	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,668,867	N322S	probably benign	Het
Tlcd2	A	G	11: 75,468,591	I70V	probably benign	Het
Tmem214	A	G	5: 30,871,451	D128G	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,781	V64A	probably benign	Het
Tyro3	T	C	2: 119,802,364	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,031,015	D627G	probably benign	Het
Utp6	T	C	11: 79,962,273	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,394,343	K775R	probably damaging	Het
Wdfy3	CG	C	5: 101,882,961		probably null	Het
Zw10	C	T	9: 49,071,644	T525I	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
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
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'- ACAGACACCTCTCGTTCTGG -3'
(R):5'- AATCCACTAGTGCGCTTCTAG -3'

Sequencing Primer
(F):5'- CTCTCGTTCTGGGGCGGAG -3'
(R):5'- TAGTGCGCTTCTAGCCAGCTAG -3'

Posted On

2019-06-07