Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Uspl1'

552641

Institutional Source

Beutler Lab

Gene Symbol

Uspl1

Ensembl Gene

ENSMUSG00000041264

Gene Name

ubiquitin specific peptidase like 1

Synonyms

E430026A01Rik

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149121338-149152246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149130745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 109 (R109S)

Ref Sequence

ENSEMBL: ENSMUSP00000050172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050472] [ENSMUST00000100410] [ENSMUST00000117878] [ENSMUST00000119685] [ENSMUST00000121416] [ENSMUST00000122160] [ENSMUST00000126168] [ENSMUST00000139474]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050472
AA Change: R109S

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

SMART Domains

Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: R109S

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	213	486	7e-139	PFAM
Pfam:DUF4650	557	1087	1.9e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100410
AA Change: R109S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: R109S

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	213	486	1.4e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117878

SMART Domains

Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C98	14	287	5.6e-140	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119685
AA Change: R95S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: R95S

Domain	Start	End	E-Value	Type
low complexity region	160	178	N/A	INTRINSIC
Pfam:Peptidase_C98	199	472	6.9e-139	PFAM
Pfam:DUF4650	543	1073	1.8e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121416

SMART Domains

Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C98	14	287	8.5e-139	PFAM
Pfam:DUF4650	358	888	1.5e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122160
AA Change: R109S

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

SMART Domains

Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: R109S

Domain	Start	End	E-Value	Type
low complexity region	174	192	N/A	INTRINSIC
Pfam:Peptidase_C98	214	486	2.5e-125	PFAM
Pfam:DUF4650	558	1087	1e-205	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000126168
AA Change: D90V

Predicted Effect

probably benign
Transcript: ENSMUST00000139474

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp14	A	G	7: 106,784,021 (GRCm39)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	probably damaging	Het

Other mutations in Uspl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00478:Uspl1	APN	5	149,152,024 (GRCm39)	missense	possibly damaging	0.95
IGL00571:Uspl1	APN	5	149,125,170 (GRCm39)	missense	probably damaging	0.99
IGL01134:Uspl1	APN	5	149,141,103 (GRCm39)	missense	probably damaging	1.00
IGL02222:Uspl1	APN	5	149,130,854 (GRCm39)	missense	probably benign	0.25
IGL02383:Uspl1	APN	5	149,150,212 (GRCm39)	missense	probably damaging	0.98
IGL02538:Uspl1	APN	5	149,125,269 (GRCm39)	missense	probably damaging	1.00
IGL02546:Uspl1	APN	5	149,141,114 (GRCm39)	missense	possibly damaging	0.95
IGL02585:Uspl1	APN	5	149,150,872 (GRCm39)	nonsense	probably null
IGL02971:Uspl1	APN	5	149,125,156 (GRCm39)	missense	possibly damaging	0.84
R0020:Uspl1	UTSW	5	149,146,589 (GRCm39)	missense	probably damaging	1.00
R0070:Uspl1	UTSW	5	149,146,515 (GRCm39)	missense	probably damaging	1.00
R0142:Uspl1	UTSW	5	149,125,159 (GRCm39)	missense	possibly damaging	0.68
R0433:Uspl1	UTSW	5	149,151,625 (GRCm39)	missense	probably damaging	1.00
R0554:Uspl1	UTSW	5	149,124,644 (GRCm39)	missense	probably damaging	1.00
R0612:Uspl1	UTSW	5	149,151,767 (GRCm39)	missense	probably damaging	1.00
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1195:Uspl1	UTSW	5	149,131,131 (GRCm39)	missense	probably benign	0.24
R1465:Uspl1	UTSW	5	149,150,842 (GRCm39)	missense	probably benign	0.12
R1465:Uspl1	UTSW	5	149,150,842 (GRCm39)	missense	probably benign	0.12
R1623:Uspl1	UTSW	5	149,152,009 (GRCm39)	missense	probably damaging	1.00
R1737:Uspl1	UTSW	5	149,138,668 (GRCm39)	missense	probably damaging	1.00
R1793:Uspl1	UTSW	5	149,150,246 (GRCm39)	missense	probably damaging	1.00
R1823:Uspl1	UTSW	5	149,151,224 (GRCm39)	missense	probably benign	0.25
R2088:Uspl1	UTSW	5	149,146,560 (GRCm39)	missense	probably damaging	1.00
R2099:Uspl1	UTSW	5	149,151,568 (GRCm39)	missense	probably damaging	1.00
R2497:Uspl1	UTSW	5	149,124,664 (GRCm39)	missense	probably damaging	0.98
R2944:Uspl1	UTSW	5	149,138,606 (GRCm39)	missense	probably damaging	1.00
R3437:Uspl1	UTSW	5	149,151,507 (GRCm39)	utr 3 prime	probably benign
R4132:Uspl1	UTSW	5	149,141,159 (GRCm39)	missense	probably damaging	0.99
R4458:Uspl1	UTSW	5	149,150,962 (GRCm39)	missense	possibly damaging	0.82
R4537:Uspl1	UTSW	5	149,124,588 (GRCm39)	missense	possibly damaging	0.66
R4623:Uspl1	UTSW	5	149,151,405 (GRCm39)	missense	probably damaging	0.99
R4633:Uspl1	UTSW	5	149,151,202 (GRCm39)	missense	probably damaging	1.00
R4737:Uspl1	UTSW	5	149,131,149 (GRCm39)	missense	possibly damaging	0.86
R4743:Uspl1	UTSW	5	149,146,566 (GRCm39)	missense	probably damaging	1.00
R5200:Uspl1	UTSW	5	149,150,923 (GRCm39)	missense	probably benign	0.02
R5222:Uspl1	UTSW	5	149,150,911 (GRCm39)	missense	possibly damaging	0.77
R5337:Uspl1	UTSW	5	149,151,556 (GRCm39)	missense	probably damaging	0.99
R5496:Uspl1	UTSW	5	149,146,589 (GRCm39)	missense	probably damaging	1.00
R5654:Uspl1	UTSW	5	149,146,521 (GRCm39)	missense	probably damaging	1.00
R5845:Uspl1	UTSW	5	149,130,770 (GRCm39)	missense	probably benign	0.01
R6266:Uspl1	UTSW	5	149,141,176 (GRCm39)	missense	probably damaging	1.00
R6331:Uspl1	UTSW	5	149,151,097 (GRCm39)	missense	probably benign	0.40
R6338:Uspl1	UTSW	5	149,151,844 (GRCm39)	missense	probably benign	0.03
R6774:Uspl1	UTSW	5	149,150,904 (GRCm39)	missense	probably benign	0.00
R6855:Uspl1	UTSW	5	149,124,655 (GRCm39)	missense	probably damaging	1.00
R7152:Uspl1	UTSW	5	149,124,588 (GRCm39)	missense	possibly damaging	0.66
R7446:Uspl1	UTSW	5	149,141,082 (GRCm39)	nonsense	probably null
R7661:Uspl1	UTSW	5	149,151,827 (GRCm39)	missense	probably benign	0.15
R8095:Uspl1	UTSW	5	149,150,992 (GRCm39)	nonsense	probably null
R8126:Uspl1	UTSW	5	149,151,430 (GRCm39)	missense	probably damaging	1.00
R8316:Uspl1	UTSW	5	149,135,491 (GRCm39)	missense	possibly damaging	0.75
R8479:Uspl1	UTSW	5	149,152,004 (GRCm39)	missense	probably damaging	1.00
R8926:Uspl1	UTSW	5	149,138,701 (GRCm39)	critical splice donor site	probably null
R9140:Uspl1	UTSW	5	149,150,290 (GRCm39)	missense	possibly damaging	0.57
R9178:Uspl1	UTSW	5	149,141,148 (GRCm39)	missense	probably damaging	1.00
R9196:Uspl1	UTSW	5	149,151,349 (GRCm39)	missense	probably benign	0.02
R9359:Uspl1	UTSW	5	149,146,481 (GRCm39)	missense	probably damaging	1.00
R9384:Uspl1	UTSW	5	149,151,349 (GRCm39)	missense	probably benign	0.02
R9608:Uspl1	UTSW	5	149,151,870 (GRCm39)	missense	probably benign	0.17
X0019:Uspl1	UTSW	5	149,151,077 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGGGCACACTTGAGTTAG -3'
(R):5'- TCTTCTGTAGCGGCCACAAC -3'

Sequencing Primer
(F):5'- AGATGGGCACACTTGAGTTAGTTACC -3'
(R):5'- TGCTCCACAGAAGCAGCTG -3'

Posted On

2019-05-15