Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Obsl1'

574217

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: 0.235) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75479310-75506452 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75487704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1653 (T1653A)

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: T1653A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: T1653A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,706,075	P12Q	probably damaging	Het
Acsf3	A	G	8: 122,780,424	Y152C	probably damaging	Het
Adam22	T	A	5: 8,095,049	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,578,617	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,776,018	D464G	possibly damaging	Het
Alpk3	T	A	7: 81,076,912	I115K	probably benign	Het
Amdhd2	A	G	17: 24,161,683	S96P		Het
Ankib1	T	G	5: 3,769,586	D111A	probably benign	Het
Arhgef2	A	G	3: 88,633,566	D216G	probably damaging	Het
Astn1	A	T	1: 158,552,855		probably benign	Het
Atrn	T	A	2: 130,947,600	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427	H375L	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Btaf1	A	T	19: 37,003,515	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,607,659	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 94,903,353	K520R	probably damaging	Het
Cd2ap	T	C	17: 42,805,163	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 47,711,373	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,659,378	Y735*	probably null	Het
Cep350	T	A	1: 155,928,215	I1041L	probably benign	Het
Ckap4	A	G	10: 84,527,999	V400A	probably damaging	Het
Comp	T	A	8: 70,377,204	D359E	probably benign	Het
Coq10b	A	C	1: 55,061,341	K61N	probably benign	Het
Csmd2	A	C	4: 128,322,095	S548R		Het
Csmd2	G	A	4: 128,322,096	S548N		Het
Ctif	A	G	18: 75,611,736	I99T	probably benign	Het
Ctns	T	G	11: 73,193,077	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,840,825	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,740,874	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,962,005	K401R	probably damaging	Het
Dstn	T	A	2: 143,938,448	C23S	probably benign	Het
Fam214a	C	A	9: 75,006,386	Y107*	probably null	Het
Fam72a	A	T	1: 131,538,875	E132D	probably damaging	Het
Fam72a	G	T	1: 131,538,876	E133*	probably null	Het
Gbp8	T	A	5: 105,031,295	I113F	probably damaging	Het
Gm3095	A	T	14: 3,964,463	R60S	possibly damaging	Het
Gpa33	A	T	1: 166,152,694	M109L	probably damaging	Het
Grik2	A	G	10: 49,535,397	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,206,293	F897L	probably damaging	Het
Hinfp	A	G	9: 44,298,017	L295P	probably damaging	Het
Ift122	T	C	6: 115,894,322	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,702,233	T82A	probably benign	Het
Il18rap	T	A	1: 40,524,951	S76R	probably benign	Het
Itga6	A	T	2: 71,853,553	N1045I	probably benign	Het
Kctd21	A	T	7: 97,347,763	I148F	possibly damaging	Het
Kif28	T	A	1: 179,740,079	H42L	probably benign	Het
Kmt2c	A	C	5: 25,395,420	C326W	probably damaging	Het
Knl1	T	A	2: 119,095,226	L1912*	probably null	Het
Lrfn1	A	T	7: 28,459,522	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,221,324	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,257,554	N592I	probably damaging	Het
Mbl2	A	G	19: 30,239,402	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,637,178	M1I	probably null	Het
Mgat4a	T	A	1: 37,454,784	H327L	probably damaging	Het
Miox	A	G	15: 89,335,003	D16G	probably benign	Het
Mvk	C	A	5: 114,455,978	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699	L726P	probably damaging	Het
Nos1	T	C	5: 117,949,815	I1381T	probably benign	Het
Nup98	A	T	7: 102,134,937	S1063T	probably benign	Het
Obscn	T	G	11: 58,995,449	M7862L	unknown	Het
Olfr1044	A	G	2: 86,171,202	I205T	probably benign	Het
Olfr1202	G	T	2: 88,817,343	M57I	probably damaging	Het
Olfr1497	C	T	19: 13,794,994	V206I	probably damaging	Het
Olfr968	T	A	9: 39,771,964	T279S	probably benign	Het
Pcdhb20	A	G	18: 37,504,952	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,301,604	I208L	probably benign	Het
Phlpp1	G	T	1: 106,389,690	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,058,794	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,002,439	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419	C101R	probably damaging	Het
Rcor3	A	C	1: 192,127,983	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,919,650	Q653R	probably benign	Het
Rpap2	T	A	5: 107,620,458	Y387*	probably null	Het
Rttn	C	T	18: 88,985,911	T343M	possibly damaging	Het
Samd11	T	C	4: 156,248,773	T333A	probably benign	Het
Six5	T	C	7: 19,095,043	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,982,932	M419K	probably benign	Het
Slc22a21	T	C	11: 53,960,400	M179V	probably benign	Het
Slc35a4	A	G	18: 36,680,517	D6G	unknown	Het
Spdye4c	A	T	2: 128,592,341	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,147,696	N85S	probably benign	Het
Teddm2	A	T	1: 153,850,597	L124Q	probably damaging	Het
Teddm2	G	C	1: 153,850,598	L124V	probably benign	Het
Tgfbr1	T	A	4: 47,405,623	W409R	probably damaging	Het
Tkt	A	G	14: 30,558,798	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,884,300	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,799,206	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,869,821	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,267,621	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,495,755	T523I	probably benign	Het
Vwa3b	C	T	1: 37,114,597	Q507*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Zfp281	T	G	1: 136,625,452	L56R	probably damaging	Het
Zfp407	G	A	18: 84,561,536	T484I	probably benign	Het
Zfp451	T	C	1: 33,813,762	T24A	probably benign	Het
Zfp607b	T	A	7: 27,693,494	F16I	probably damaging	Het
Zfp638	T	A	6: 83,928,688	V41E	possibly 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
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'- TAGGCAGAACTCAGAGCTGG -3'
(R):5'- TTTAACCCACTTCTAGGGAGGGG -3'

Sequencing Primer
(F):5'- CCGGGAGACACCAGCAGTAG -3'
(R):5'- CTTCTAGGGAGGGGGCGTG -3'

Posted On

2019-09-13