Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Obsl1'

210912

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R1873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75462469-75483134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75474877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 841 (Y841C)

Ref Sequence

ENSEMBL: ENSMUSP00000109197 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113565
AA Change: Y841C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: Y841C

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: Y841C

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

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: Y841C

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

noncoding transcript
Transcript: ENSMUST00000129403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145306

Predicted Effect

unknown
Transcript: ENSMUST00000155084
AA Change: Y646C

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: Y646C

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

Meta Mutation Damage Score

0.5721

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Glcci1	C	A	6: 8,537,837 (GRCm39)	H152N	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het

Other mutations in Obsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Obsl1	APN	1	75,467,518 (GRCm39)	missense	probably benign	0.02
IGL01111:Obsl1	APN	1	75,473,789 (GRCm39)	missense	possibly damaging	0.62
IGL01140:Obsl1	APN	1	75,466,400 (GRCm39)	unclassified	probably benign
IGL02149:Obsl1	APN	1	75,480,464 (GRCm39)	missense	probably damaging	1.00
IGL02225:Obsl1	APN	1	75,480,442 (GRCm39)	missense	probably damaging	0.99
IGL02269:Obsl1	APN	1	75,464,357 (GRCm39)	missense	probably damaging	0.97
IGL02296:Obsl1	APN	1	75,474,793 (GRCm39)	missense	possibly damaging	0.94
IGL02386:Obsl1	APN	1	75,469,161 (GRCm39)	missense	probably damaging	1.00
IGL02408:Obsl1	APN	1	75,481,890 (GRCm39)	missense	probably damaging	0.98
IGL02601:Obsl1	APN	1	75,466,264 (GRCm39)	missense	probably benign
IGL03053:Obsl1	APN	1	75,469,723 (GRCm39)	missense	probably benign
IGL03181:Obsl1	APN	1	75,469,228 (GRCm39)	missense	probably benign	0.00
IGL03402:Obsl1	APN	1	75,463,443 (GRCm39)	missense	probably benign	0.00
Jude	UTSW	1	75,474,877 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Obsl1	UTSW	1	75,482,811 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Obsl1	UTSW	1	75,464,607 (GRCm39)	missense	probably benign	0.06
R0281:Obsl1	UTSW	1	75,469,571 (GRCm39)	missense	probably damaging	1.00
R1343:Obsl1	UTSW	1	75,469,223 (GRCm39)	missense	probably damaging	1.00
R1394:Obsl1	UTSW	1	75,469,309 (GRCm39)	missense	probably damaging	0.96
R1395:Obsl1	UTSW	1	75,469,309 (GRCm39)	missense	probably damaging	0.96
R1439:Obsl1	UTSW	1	75,463,428 (GRCm39)	nonsense	probably null
R1456:Obsl1	UTSW	1	75,464,300 (GRCm39)	nonsense	probably null
R1728:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1729:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1730:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1739:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1757:Obsl1	UTSW	1	75,470,527 (GRCm39)	missense	probably benign
R1762:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1783:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1784:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1785:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R1851:Obsl1	UTSW	1	75,469,537 (GRCm39)	missense	probably damaging	1.00
R1864:Obsl1	UTSW	1	75,469,753 (GRCm39)	missense	probably benign	0.01
R1875:Obsl1	UTSW	1	75,474,877 (GRCm39)	missense	probably damaging	1.00
R1980:Obsl1	UTSW	1	75,482,480 (GRCm39)	missense	probably damaging	1.00
R1985:Obsl1	UTSW	1	75,482,244 (GRCm39)	missense	probably damaging	1.00
R2049:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R2069:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R2122:Obsl1	UTSW	1	75,470,527 (GRCm39)	missense	probably benign
R2141:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R2142:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
R2184:Obsl1	UTSW	1	75,478,861 (GRCm39)	missense	probably benign	0.26
R2267:Obsl1	UTSW	1	75,482,342 (GRCm39)	missense	probably damaging	1.00
R2883:Obsl1	UTSW	1	75,473,155 (GRCm39)	missense	possibly damaging	0.73
R3079:Obsl1	UTSW	1	75,467,467 (GRCm39)	missense	probably damaging	1.00
R3749:Obsl1	UTSW	1	75,474,890 (GRCm39)	missense	probably benign
R4002:Obsl1	UTSW	1	75,476,743 (GRCm39)	missense	possibly damaging	0.90
R4365:Obsl1	UTSW	1	75,464,693 (GRCm39)	missense	possibly damaging	0.91
R4366:Obsl1	UTSW	1	75,464,693 (GRCm39)	missense	possibly damaging	0.91
R4414:Obsl1	UTSW	1	75,467,546 (GRCm39)	missense	probably benign	0.00
R4700:Obsl1	UTSW	1	75,480,085 (GRCm39)	missense	probably damaging	1.00
R4799:Obsl1	UTSW	1	75,466,145 (GRCm39)	missense	possibly damaging	0.93
R5081:Obsl1	UTSW	1	75,464,607 (GRCm39)	missense	possibly damaging	0.49
R5389:Obsl1	UTSW	1	75,479,905 (GRCm39)	intron	probably benign
R5757:Obsl1	UTSW	1	75,469,699 (GRCm39)	missense	probably damaging	0.98
R5890:Obsl1	UTSW	1	75,470,503 (GRCm39)	missense	probably damaging	1.00
R5946:Obsl1	UTSW	1	75,467,851 (GRCm39)	missense	probably damaging	0.96
R6005:Obsl1	UTSW	1	75,468,859 (GRCm39)	splice site	probably null
R6118:Obsl1	UTSW	1	75,468,722 (GRCm39)	intron	probably benign
R6154:Obsl1	UTSW	1	75,476,788 (GRCm39)	missense	probably benign	0.19
R6317:Obsl1	UTSW	1	75,466,273 (GRCm39)	missense	possibly damaging	0.50
R6379:Obsl1	UTSW	1	75,479,787 (GRCm39)	missense	probably damaging	1.00
R6387:Obsl1	UTSW	1	75,468,006 (GRCm39)	missense	probably benign	0.03
R7084:Obsl1	UTSW	1	75,464,394 (GRCm39)	missense	probably benign
R7123:Obsl1	UTSW	1	75,466,313 (GRCm39)	missense	probably damaging	1.00
R7202:Obsl1	UTSW	1	75,466,360 (GRCm39)	missense	possibly damaging	0.94
R7291:Obsl1	UTSW	1	75,466,161 (GRCm39)	missense	probably damaging	0.98
R7305:Obsl1	UTSW	1	75,470,590 (GRCm39)	nonsense	probably null
R7366:Obsl1	UTSW	1	75,479,608 (GRCm39)	missense	probably damaging	1.00
R7402:Obsl1	UTSW	1	75,464,348 (GRCm39)	missense	probably benign
R7474:Obsl1	UTSW	1	75,474,828 (GRCm39)	missense	probably benign	0.00
R7611:Obsl1	UTSW	1	75,482,024 (GRCm39)	missense	probably damaging	0.96
R7672:Obsl1	UTSW	1	75,469,365 (GRCm39)	missense	probably benign	0.18
R7715:Obsl1	UTSW	1	75,478,680 (GRCm39)	missense	probably damaging	0.99
R7762:Obsl1	UTSW	1	75,480,167 (GRCm39)	missense	probably benign
R8005:Obsl1	UTSW	1	75,482,096 (GRCm39)	missense	probably damaging	1.00
R8012:Obsl1	UTSW	1	75,469,317 (GRCm39)	missense	probably benign	0.12
R8379:Obsl1	UTSW	1	75,480,501 (GRCm39)	missense	possibly damaging	0.92
R8381:Obsl1	UTSW	1	75,480,501 (GRCm39)	missense	possibly damaging	0.92
R8383:Obsl1	UTSW	1	75,480,501 (GRCm39)	missense	possibly damaging	0.92
R8396:Obsl1	UTSW	1	75,480,350 (GRCm39)	missense	probably benign	0.01
R8465:Obsl1	UTSW	1	75,480,032 (GRCm39)	missense	probably damaging	1.00
R8506:Obsl1	UTSW	1	75,482,300 (GRCm39)	missense	probably benign	0.00
R8710:Obsl1	UTSW	1	75,469,326 (GRCm39)	missense	probably benign
R8877:Obsl1	UTSW	1	75,473,167 (GRCm39)	nonsense	probably null
R8903:Obsl1	UTSW	1	75,463,917 (GRCm39)	missense	possibly damaging	0.65
R8913:Obsl1	UTSW	1	75,467,892 (GRCm39)	missense	probably benign	0.00
R8924:Obsl1	UTSW	1	75,482,841 (GRCm39)	missense	probably benign	0.00
R8955:Obsl1	UTSW	1	75,480,493 (GRCm39)	missense	probably damaging	1.00
R9008:Obsl1	UTSW	1	75,482,027 (GRCm39)	missense	probably benign
R9121:Obsl1	UTSW	1	75,482,636 (GRCm39)	missense	possibly damaging	0.93
R9295:Obsl1	UTSW	1	75,476,721 (GRCm39)	missense	probably damaging	1.00
R9362:Obsl1	UTSW	1	75,482,391 (GRCm39)	missense	probably benign	0.01
R9367:Obsl1	UTSW	1	75,466,177 (GRCm39)	missense	probably benign	0.18
R9459:Obsl1	UTSW	1	75,474,884 (GRCm39)	missense	probably benign	0.16
R9496:Obsl1	UTSW	1	75,467,484 (GRCm39)	missense	probably damaging	1.00
R9497:Obsl1	UTSW	1	75,467,484 (GRCm39)	missense	probably damaging	1.00
R9498:Obsl1	UTSW	1	75,467,484 (GRCm39)	missense	probably damaging	1.00
R9502:Obsl1	UTSW	1	75,466,267 (GRCm39)	missense	probably damaging	0.98
R9546:Obsl1	UTSW	1	75,482,030 (GRCm39)	missense	probably damaging	0.98
R9550:Obsl1	UTSW	1	75,474,910 (GRCm39)	missense	possibly damaging	0.95
R9561:Obsl1	UTSW	1	75,480,157 (GRCm39)	missense	possibly damaging	0.86
R9687:Obsl1	UTSW	1	75,479,670 (GRCm39)	missense	probably damaging	1.00
V8831:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
X0061:Obsl1	UTSW	1	75,463,412 (GRCm39)	missense	probably benign
Z1088:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
Z1176:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
Z1177:Obsl1	UTSW	1	75,467,656 (GRCm39)	missense	possibly damaging	0.95
Z1177:Obsl1	UTSW	1	75,486,756 (GRCm38)	missense	probably benign
Z1177:Obsl1	UTSW	1	75,480,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGCTCAGGACTAGGCAGTAC -3'
(R):5'- GCCCTTGAGTCTCCTGTGTAAG -3'

Sequencing Primer
(F):5'- ACTAGGCAGTACAGGAGGC -3'
(R):5'- AAGAGGTGTTTATGACCCATTTCTGC -3'

Posted On

2014-06-30