Mutagenetix > Incidental Mutation

Incidental Mutation 'R9174:Ubap1l'

696583

Institutional Source

Beutler Lab

Gene Symbol

Ubap1l

Ensembl Gene

ENSMUSG00000086228

Gene Name

ubiquitin-associated protein 1-like

Synonyms

Gm514, LOC208080

MMRRC Submission

068977-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65268323-65287659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65284289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 339 (H339Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147185]

AlphaFold

G3UW59

Predicted Effect

probably benign
Transcript: ENSMUST00000147185
AA Change: H339Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128815
Gene: ENSMUSG00000086228
AA Change: H339Q

Domain	Start	End	E-Value	Type
coiled coil region	106	129	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC
PDB:4AE4\|B	269	375	1e-15	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap1	A	G	11: 88,725,991 (GRCm39)	Y737H	probably damaging	Het
Arap2	A	T	5: 62,855,606 (GRCm39)	V610E	probably damaging	Het
Arf1	G	A	11: 59,103,433 (GRCm39)	T158I	probably damaging	Het
Atat1	T	C	17: 36,220,032 (GRCm39)	K90R	probably benign	Het
Cfap70	C	A	14: 20,493,706 (GRCm39)	G132W	probably damaging	Het
Cpne9	T	A	6: 113,279,032 (GRCm39)	D475E	probably damaging	Het
Dapp1	T	C	3: 137,638,916 (GRCm39)	D270G	probably benign	Het
Dnajc21	A	T	15: 10,462,076 (GRCm39)	Y108*	probably null	Het
Etv4	A	G	11: 101,662,705 (GRCm39)		probably null	Het
Fes	C	A	7: 80,030,631 (GRCm39)	V555F	probably damaging	Het
Gm14496	A	C	2: 181,642,797 (GRCm39)	I823L	possibly damaging	Het
H2-M9	A	C	17: 36,953,181 (GRCm39)	L42R	probably damaging	Het
Ifitm2	A	T	7: 140,535,013 (GRCm39)	I107N	probably damaging	Het
Impg1	T	C	9: 80,252,750 (GRCm39)	T477A	probably damaging	Het
Inca1	G	A	11: 70,580,732 (GRCm39)	P78S	possibly damaging	Het
Khk	A	G	5: 31,085,819 (GRCm39)	E126G	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Mars1	A	T	10: 127,135,237 (GRCm39)	I618N	probably damaging	Het
Mgl2	C	A	11: 70,026,606 (GRCm39)	F110L	probably benign	Het
Mon1b	A	G	8: 114,365,689 (GRCm39)	D339G	probably damaging	Het
Pfdn2	G	C	1: 171,184,164 (GRCm39)	E48Q	probably damaging	Het
Pilra	A	G	5: 137,833,898 (GRCm39)	I56T	probably damaging	Het
Ptpru	A	T	4: 131,535,746 (GRCm39)	N410K	probably damaging	Het
Sema3c	T	C	5: 17,868,039 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,295,893 (GRCm39)	E1052G	probably benign	Het
Stau1	A	G	2: 166,791,269 (GRCm39)	C495R	probably damaging	Het
Urb2	A	G	8: 124,767,987 (GRCm39)	D1411G	possibly damaging	Het
Ush2a	T	A	1: 188,460,416 (GRCm39)	I2559N	probably damaging	Het
Vipas39	A	T	12: 87,305,885 (GRCm39)	S103T	possibly damaging	Het
Vrk1	G	A	12: 106,002,811 (GRCm39)	R3H	probably benign	Het
Wdr46	G	T	17: 34,167,668 (GRCm39)	R493L	possibly damaging	Het
Zbtb8a	T	C	4: 129,254,125 (GRCm39)	D123G	probably damaging	Het

Other mutations in Ubap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01681:Ubap1l	APN	9	65,281,201 (GRCm39)	missense	probably benign	0.00
IGL02506:Ubap1l	APN	9	65,276,493 (GRCm39)	utr 5 prime	probably benign
R1437:Ubap1l	UTSW	9	65,279,337 (GRCm39)	missense	possibly damaging	0.60
R1509:Ubap1l	UTSW	9	65,279,237 (GRCm39)	missense	probably benign
R1700:Ubap1l	UTSW	9	65,279,025 (GRCm39)	unclassified	probably benign
R1993:Ubap1l	UTSW	9	65,279,078 (GRCm39)	missense	possibly damaging	0.86
R2106:Ubap1l	UTSW	9	65,281,089 (GRCm39)	missense	probably benign	0.00
R3963:Ubap1l	UTSW	9	65,276,477 (GRCm39)	start gained	probably benign
R5531:Ubap1l	UTSW	9	65,278,973 (GRCm39)	missense	probably damaging	0.96
R5699:Ubap1l	UTSW	9	65,279,337 (GRCm39)	missense	possibly damaging	0.60
R5728:Ubap1l	UTSW	9	65,276,570 (GRCm39)	missense	probably benign
R5850:Ubap1l	UTSW	9	65,281,045 (GRCm39)	missense	probably damaging	1.00
R7384:Ubap1l	UTSW	9	65,279,032 (GRCm39)	unclassified	probably benign
R9148:Ubap1l	UTSW	9	65,276,603 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTAAGACCCTTGGTTGGCC -3'
(R):5'- TTGACACAGTTACTACAGCGAAG -3'

Sequencing Primer
(F):5'- GTTGGCCCCCTAGCTTGAC -3'
(R):5'- GCTCCTCCAGCCTCCAG -3'

Posted On

2022-02-07