Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Obsl1'

655544

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75462469-75483134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75482300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 190 (A190V)

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 benign
Transcript: ENSMUST00000113565
AA Change: A190V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: A190V

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: A190V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: A190V

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: 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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Etnppl	G	A	3: 130,423,122 (GRCm39)	V274I	possibly damaging	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,457,947 (GRCm39)	E161D	probably damaging	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nrf1	G	A	6: 30,126,256 (GRCm39)	A416T	probably benign	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Pfkfb4	T	G	9: 108,834,667 (GRCm39)	D113E	possibly damaging	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably damaging	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
R1873:Obsl1	UTSW	1	75,474,877 (GRCm39)	missense	probably damaging	1.00
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
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'- ACGTAGCAGCGGAATTTGGC -3'
(R):5'- CACTGTCGTGTGGGAGAAAG -3'

Sequencing Primer
(F):5'- TGCCCTCGTTCACCCAGAAG -3'
(R):5'- AGCGCCTAAGCTTTCCG -3'

Posted On

2020-10-20