Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Obsl1'

646835

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

067810-MU

Accession Numbers

Essential gene?

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

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75462469-75483134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75480501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 374 (F374L)

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

possibly damaging
Transcript: ENSMUST00000113565
AA Change: F374L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211
AA Change: F374L

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

possibly damaging
Transcript: ENSMUST00000113567
AA Change: F374L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: F374L

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: F179L

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: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,920,126 (GRCm39)	D314G	probably benign	Het
Ankrd12	T	G	17: 66,290,939 (GRCm39)	E1498A	probably benign	Het
Appl1	A	T	14: 26,647,372 (GRCm39)		probably null	Het
Auh	A	G	13: 53,063,349 (GRCm39)	*116R	probably null	Het
Ccdc7a	T	A	8: 129,691,417 (GRCm39)	H402L	probably benign	Het
Ccr4	T	C	9: 114,321,235 (GRCm39)	T277A	probably benign	Het
Col18a1	C	T	10: 76,889,072 (GRCm39)	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,688,925 (GRCm39)	I35T	probably benign	Het
Csnk1e	T	C	15: 79,304,882 (GRCm39)	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,437,020 (GRCm39)	R105G	probably benign	Het
Denr	C	A	5: 124,065,124 (GRCm39)	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,359,571 (GRCm39)	Y82*	probably null	Het
Dok3	A	G	13: 55,671,833 (GRCm39)	V246A	probably benign	Het
Endov	A	C	11: 119,382,723 (GRCm39)	K57Q	possibly damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbln1	G	A	15: 85,116,773 (GRCm39)	C275Y	probably damaging	Het
Fhip1b	T	C	7: 105,034,342 (GRCm39)	N430D	possibly damaging	Het
Foxi1	A	G	11: 34,157,530 (GRCm39)	I165T	possibly damaging	Het
Gm14496	A	T	2: 181,642,275 (GRCm39)	I649F	probably damaging	Het
Grin2b	A	G	6: 135,899,967 (GRCm39)	S305P	probably damaging	Het
Grm1	G	A	10: 10,564,879 (GRCm39)	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,802,298 (GRCm39)		probably null	Het
Klhl32	A	T	4: 24,629,194 (GRCm39)	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Krt13	A	G	11: 100,009,706 (GRCm39)	L358P	probably damaging	Het
Limk2	G	A	11: 3,321,162 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,756,453 (GRCm39)	D4720G	probably null	Het
Mkln1	T	A	6: 31,435,900 (GRCm39)	Y286*	probably null	Het
Muc6	C	A	7: 141,230,579 (GRCm39)	E1143*	probably null	Het
Myh15	A	G	16: 48,901,551 (GRCm39)	I242M	probably benign	Het
Noc4l	T	G	5: 110,798,828 (GRCm39)	K241Q	probably damaging	Het
Nup88	C	A	11: 70,860,607 (GRCm39)	L57F	possibly damaging	Het
Or51aa2	A	G	7: 103,188,183 (GRCm39)	I86T	possibly damaging	Het
Orm1	A	T	4: 63,264,355 (GRCm39)	D137V	probably damaging	Het
Osbpl2	T	A	2: 179,778,895 (GRCm39)	D9E	probably damaging	Het
P4ha3	G	T	7: 99,942,986 (GRCm39)	D124Y	probably damaging	Het
Poteg	T	C	8: 27,943,354 (GRCm39)	V208A	probably benign	Het
Ppfibp1	A	G	6: 146,931,843 (GRCm39)	D963G	probably damaging	Het
Prdx6	G	T	1: 161,078,660 (GRCm39)	D9E	probably benign	Het
Prrc2b	C	A	2: 32,104,666 (GRCm39)	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,565,598 (GRCm39)	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rexo5	A	T	7: 119,433,508 (GRCm39)	M422L	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo2	A	T	16: 73,730,588 (GRCm39)	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,106,755 (GRCm39)	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,225,048 (GRCm39)	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,850,668 (GRCm39)	M487L	probably benign	Het
St6galnac1	C	A	11: 116,666,325 (GRCm39)		probably benign	Het
Tcp11l2	A	G	10: 84,449,469 (GRCm39)	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,223,482 (GRCm39)	C67*	probably null	Het
Tead2	G	A	7: 44,867,505 (GRCm39)	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849 (GRCm39)	N194K	probably damaging	Het
Timd2	A	G	11: 46,568,027 (GRCm39)		probably null	Het
Tmem270	T	C	5: 134,930,557 (GRCm39)	T235A	probably benign	Het
Tnrc18	T	C	5: 142,774,157 (GRCm39)	D224G		Het
Tsga10	G	T	1: 37,840,959 (GRCm39)	Q416K	probably benign	Het
Ulk1	C	A	5: 110,935,531 (GRCm39)	L911F	probably damaging	Het
Usp8	T	C	2: 126,584,491 (GRCm39)	S567P	probably benign	Het
Vmn2r-ps158	C	T	7: 42,697,270 (GRCm39)	P776S	probably damaging	Het
Zdhhc3	A	C	9: 122,918,143 (GRCm39)	C129G	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
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'- AGCTGACCTTTGACCGTCAC -3'
(R):5'- GAATTAGGCCAACTAACTTAGCTGG -3'

Sequencing Primer
(F):5'- TCACATTGGCCACAGTGC -3'
(R):5'- ACTAACTTAGCTGGGAATTCGGCC -3'

Posted On

2020-09-02