Mutagenetix > Incidental Mutation

Incidental Mutation 'R1394:Obsl1'

162723

Institutional Source

Beutler Lab

Gene Symbol

Obsl1

Ensembl Gene

ENSMUSG00000026211

Gene Name

obscurin-like 1

Synonyms

MMRRC Submission

039456-MU

Accession Numbers

Essential gene?

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

Stock #

R1394 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

75462469-75483134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75469309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 109 (S109G)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113565

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211

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: S1211G

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

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211
AA Change: S1211G

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

probably damaging
Transcript: ENSMUST00000132252
AA Change: S109G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117420
Gene: ENSMUSG00000026211
AA Change: S109G

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

noncoding transcript
Transcript: ENSMUST00000138352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150293

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155084
AA Change: S1016G

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211
AA Change: S1016G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156705

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Casd1	T	G	6: 4,624,117 (GRCm39)	C303W	probably damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Cep290	T	C	10: 100,373,391 (GRCm39)	S1224P	possibly damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Cwc22	G	A	2: 77,759,823 (GRCm39)	R75C	possibly damaging	Het
Cyp4a30b	A	T	4: 115,328,089 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,936,099 (GRCm39)	D3298G	possibly damaging	Het
Drc3	T	C	11: 60,284,545 (GRCm39)	I450T	possibly damaging	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fkbp15	T	A	4: 62,246,109 (GRCm39)	M440L	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Ipp	T	A	4: 116,395,109 (GRCm39)	L548*	probably null	Het
Itm2a	C	T	X: 106,441,807 (GRCm39)	V200I	possibly damaging	Het
Kank1	A	G	19: 25,405,528 (GRCm39)	N1182S	probably damaging	Het
Mkks	C	T	2: 136,722,882 (GRCm39)	G92S	probably damaging	Het
Mybbp1a	C	T	11: 72,334,474 (GRCm39)	P243L	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Pcdh12	A	G	18: 38,414,242 (GRCm39)		probably null	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Phlpp2	T	A	8: 110,603,662 (GRCm39)	C109*	probably null	Het
Prickle2	T	A	6: 92,353,363 (GRCm39)	H701L	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Psg19	T	C	7: 18,530,983 (GRCm39)	N57S	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Scyl2	T	A	10: 89,476,827 (GRCm39)	K766M	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Spin1	T	C	13: 51,298,517 (GRCm39)	Y179H	probably damaging	Het
Tecpr1	T	C	5: 144,143,357 (GRCm39)	T673A	possibly damaging	Het
Tenm3	T	A	8: 48,729,435 (GRCm39)	M1508L	probably benign	Het
Vasn	C	T	16: 4,467,576 (GRCm39)	R508*	probably null	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Zfand1	G	T	3: 10,411,269 (GRCm39)	T62K	probably benign	Het
Zfy1	C	T	Y: 725,957 (GRCm39)	V603I	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
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
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'- AGCCACCTGGACATTGAAGCTG -3'
(R):5'- TATGTGAGACCCGAGATGAGGCTG -3'

Sequencing Primer
(F):5'- GACATTGAAGCTGAGGCTTG -3'
(R):5'- GATGAGGCTGTCACCTTCAAC -3'

Posted On

2014-03-17