Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Obsl1'

579311

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

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

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75462469-75483134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 75474828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 857 (N857K)

Ref Sequence

ENSEMBL: ENSMUSP00000109197 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113565
AA Change: N857K

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

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: N857K

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: N857K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: N857K

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

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: N662K

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Extl3	T	C	14: 65,314,090 (GRCm39)	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly 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
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'- TAGCTGGGACTAGTGTGCTC -3'
(R):5'- AGGTGTTTATGACCCATTTCTGC -3'

Sequencing Primer
(F):5'- ACTAGTGTGCTCAGGACTAGGC -3'
(R):5'- CTTCCCATCAAGATCCCCCAGTG -3'

Posted On

2019-10-07