Mutagenetix > Incidental Mutation

Incidental Mutation 'R5920:Otulinl'

461537

Institutional Source

Beutler Lab

Gene Symbol

Otulinl

Ensembl Gene

ENSMUSG00000056069

Gene Name

OTU deubiquitinase with linear linkage specificity like

Synonyms

Fam105a

MMRRC Submission

044117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5920 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27655154-27681630 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27664442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 109 (R109S)

Ref Sequence

ENSEMBL: ENSMUSP00000153902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100739] [ENSMUST00000226145] [ENSMUST00000226170] [ENSMUST00000226581]

AlphaFold

Q3TVP5

Predicted Effect

probably benign
Transcript: ENSMUST00000100739
AA Change: R109S

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098305
Gene: ENSMUSG00000056069
AA Change: R109S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:Peptidase_C101	85	114	4e-10	PFAM
Pfam:Peptidase_C101	112	302	1.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226145
AA Change: R109S

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226170
AA Change: R109S

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000226581

Predicted Effect

probably benign
Transcript: ENSMUST00000231473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232492

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,164,091 (GRCm39)	K31E	probably damaging	Het
Ak9	T	A	10: 41,296,672 (GRCm39)	C1473S	probably benign	Het
Aox1	T	C	1: 58,088,631 (GRCm39)	L139S	probably damaging	Het
Arhgap45	T	A	10: 79,864,965 (GRCm39)	V849D	possibly damaging	Het
Atp13a1	G	A	8: 70,252,746 (GRCm39)	E689K	probably benign	Het
Calcr	G	A	6: 3,722,994 (GRCm39)	R11W	probably damaging	Het
Casd1	T	A	6: 4,641,853 (GRCm39)	L710Q	probably null	Het
Cenpc1	T	A	5: 86,168,769 (GRCm39)	T743S	probably benign	Het
Cfap43	A	G	19: 47,749,335 (GRCm39)	V1185A	possibly damaging	Het
Chd2	A	G	7: 73,187,060 (GRCm39)	L33P	probably damaging	Het
Col24a1	G	T	3: 145,133,985 (GRCm39)	G889C	probably damaging	Het
Cracdl	T	A	1: 37,677,062 (GRCm39)	K40M	probably damaging	Het
Dbh	T	C	2: 27,067,243 (GRCm39)		probably benign	Het
Dcdc2c	T	C	12: 28,585,536 (GRCm39)	I154V	possibly damaging	Het
Eif2b5	G	T	16: 20,317,694 (GRCm39)	A11S	unknown	Het
Frmd4a	T	G	2: 4,337,927 (GRCm39)	N44K	probably benign	Het
Fsip2	C	T	2: 82,818,852 (GRCm39)	Q4862*	probably null	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hspg2	A	T	4: 137,281,093 (GRCm39)	D3355V	probably damaging	Het
Ift56	A	G	6: 38,389,005 (GRCm39)	Y430C	probably damaging	Het
Il16	G	A	7: 83,301,552 (GRCm39)	T190I	probably benign	Het
Immt	T	A	6: 71,840,180 (GRCm39)	V319D	probably benign	Het
Kdm2b	G	C	5: 123,018,359 (GRCm39)	S989W	probably damaging	Het
Kmt2e	A	G	5: 23,704,440 (GRCm39)	E1211G	possibly damaging	Het
Ktn1	G	T	14: 47,961,481 (GRCm39)	G1061*	probably null	Het
Mast3	T	C	8: 71,240,577 (GRCm39)	I287V	probably benign	Het
Mrgpre	T	A	7: 143,335,465 (GRCm39)	T13S	probably benign	Het
Myoc	C	T	1: 162,467,128 (GRCm39)	A99V	probably benign	Het
Or10a49	C	A	7: 108,467,895 (GRCm39)	M155I	probably benign	Het
Per3	G	A	4: 151,096,907 (GRCm39)	P873S	probably benign	Het
Phykpl	A	C	11: 51,493,622 (GRCm39)	E453A	probably benign	Het
Pkd2l2	A	T	18: 34,563,826 (GRCm39)	I514L	probably benign	Het
Plcl2	G	T	17: 50,915,703 (GRCm39)	R904L	probably damaging	Het
Ptpn1	A	G	2: 167,813,668 (GRCm39)	D137G	probably benign	Het
Rasal3	G	A	17: 32,614,143 (GRCm39)	P571S	probably damaging	Het
Sdha	A	G	13: 74,475,044 (GRCm39)		probably null	Het
Tbc1d31	C	A	15: 57,805,954 (GRCm39)	Q439K	probably benign	Het
Ttc12	T	C	9: 49,364,633 (GRCm39)	D381G	possibly damaging	Het
Uaca	T	A	9: 60,776,885 (GRCm39)	M424K	probably benign	Het
Usp33	G	T	3: 152,080,320 (GRCm39)	A484S	probably damaging	Het
Usp9y	A	G	Y: 1,316,730 (GRCm39)	S1940P	probably damaging	Het
Zfp532	G	A	18: 65,777,421 (GRCm39)	V893I	probably benign	Het

Other mutations in Otulinl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Otulinl	APN	15	27,658,202 (GRCm39)	missense	possibly damaging	0.93
IGL01662:Otulinl	APN	15	27,658,151 (GRCm39)	missense	probably damaging	1.00
IGL02991:Otulinl	UTSW	15	27,658,388 (GRCm39)	missense	possibly damaging	0.88
R0349:Otulinl	UTSW	15	27,664,876 (GRCm39)	missense	probably benign	0.01
R0726:Otulinl	UTSW	15	27,657,033 (GRCm39)	missense	probably damaging	1.00
R1054:Otulinl	UTSW	15	27,664,635 (GRCm39)	missense	probably damaging	1.00
R1201:Otulinl	UTSW	15	27,658,259 (GRCm39)	nonsense	probably null
R3001:Otulinl	UTSW	15	27,664,792 (GRCm39)	missense	probably benign	0.00
R3002:Otulinl	UTSW	15	27,664,792 (GRCm39)	missense	probably benign	0.00
R4362:Otulinl	UTSW	15	27,664,429 (GRCm39)	critical splice donor site	probably null
R4363:Otulinl	UTSW	15	27,664,429 (GRCm39)	critical splice donor site	probably null
R5340:Otulinl	UTSW	15	27,658,175 (GRCm39)	missense	possibly damaging	0.75
R5364:Otulinl	UTSW	15	27,660,031 (GRCm39)	nonsense	probably null
R7044:Otulinl	UTSW	15	27,657,321 (GRCm39)	intron	probably benign
R7175:Otulinl	UTSW	15	27,658,374 (GRCm39)	missense	probably damaging	1.00
R7229:Otulinl	UTSW	15	27,658,273 (GRCm39)	missense	probably benign	0.35
R7305:Otulinl	UTSW	15	27,658,319 (GRCm39)	missense	probably benign	0.07
R8346:Otulinl	UTSW	15	27,664,644 (GRCm39)	missense	probably damaging	1.00
R8432:Otulinl	UTSW	15	27,664,818 (GRCm39)	missense	possibly damaging	0.59
R8878:Otulinl	UTSW	15	27,664,884 (GRCm39)	missense	probably benign	0.23
X0025:Otulinl	UTSW	15	27,660,028 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCTGTCCTGTCATGCTC -3'
(R):5'- GGTGGATCGGCTATCTACAGAG -3'

Sequencing Primer
(F):5'- TCACTTGAGGGACTGACCACATTAG -3'
(R):5'- GATCGGCTATCTACAGAGAAAGTTC -3'

Posted On

2017-02-28