Mutagenetix > Incidental Mutation

Incidental Mutation 'R5728:Ubap1l'

452612

Institutional Source

Beutler Lab

Gene Symbol

Ubap1l

Ensembl Gene

ENSMUSG00000086228

Gene Name

ubiquitin-associated protein 1-like

Synonyms

Gm514, LOC208080

MMRRC Submission

043345-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5728 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65268323-65287659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65276570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000149471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147185] [ENSMUST00000215152]

AlphaFold

G3UW59

Predicted Effect

probably benign
Transcript: ENSMUST00000147185
AA Change: V24A

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

SMART Domains

Protein: ENSMUSP00000128815
Gene: ENSMUSG00000086228
AA Change: V24A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215152
AA Change: V24A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217103

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	T	A	2: 103,953,213 (GRCm39)	M13K	possibly damaging	Het
Abca13	T	A	11: 9,520,576 (GRCm39)	V4493D	probably damaging	Het
Ank1	A	G	8: 23,612,783 (GRCm39)		probably null	Het
B4galnt4	A	G	7: 140,650,488 (GRCm39)	D785G	probably benign	Het
Chtop	C	T	3: 90,407,399 (GRCm39)	G187D	probably damaging	Het
Cnih1	A	G	14: 47,017,648 (GRCm39)	F78S	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcun1d4	T	C	5: 73,677,491 (GRCm39)	F57L	possibly damaging	Het
Dgkz	A	G	2: 91,776,132 (GRCm39)	S44P	possibly damaging	Het
Dhps	A	G	8: 85,799,964 (GRCm39)	D138G	probably damaging	Het
Elp2	A	G	18: 24,750,509 (GRCm39)	E282G	probably damaging	Het
Exoc6b	T	C	6: 84,837,173 (GRCm39)	Y342C	probably damaging	Het
Fasn	A	C	11: 120,704,339 (GRCm39)	S1386A	probably benign	Het
Foxj3	A	T	4: 119,430,959 (GRCm39)	N111Y	probably damaging	Het
Gm5431	T	C	11: 48,779,440 (GRCm39)	E772G	probably damaging	Het
Gpbar1	A	G	1: 74,318,216 (GRCm39)	N153S	probably damaging	Het
Hspg2	T	C	4: 137,270,077 (GRCm39)	I2345T	possibly damaging	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Lce1f	A	G	3: 92,626,652 (GRCm39)	S2P	unknown	Het
Lrrk2	A	G	15: 91,659,177 (GRCm39)	D1863G	probably benign	Het
Lurap1	T	C	4: 116,001,585 (GRCm39)	E36G	possibly damaging	Het
Lysmd3	A	G	13: 81,817,380 (GRCm39)	E119G	probably damaging	Het
Map9	G	A	3: 82,270,642 (GRCm39)	V69I	probably benign	Het
Mfsd4b2	A	C	10: 39,799,791 (GRCm39)	F37C	possibly damaging	Het
Moxd1	A	T	10: 24,099,581 (GRCm39)	H27L	possibly damaging	Het
Myo15a	A	T	11: 60,379,722 (GRCm39)	K1476N	probably damaging	Het
Mzf1	A	G	7: 12,777,985 (GRCm39)	I552T	probably benign	Het
Nfatc2	A	G	2: 168,322,169 (GRCm39)	V910A	probably benign	Het
Or52n2	C	T	7: 104,542,436 (GRCm39)	R133Q	possibly damaging	Het
Prss2	T	C	6: 41,500,851 (GRCm39)	V88A	probably benign	Het
Rhbdf1	A	G	11: 32,159,901 (GRCm39)		probably null	Het
Slc10a4	A	T	5: 73,169,677 (GRCm39)	Q434L	probably damaging	Het
Slc4a3	A	G	1: 75,526,484 (GRCm39)	T2A	probably benign	Het
Sqor	A	G	2: 122,651,320 (GRCm39)	*194W	probably null	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tagap1	A	G	17: 7,224,420 (GRCm39)	V92A	probably benign	Het
Tiam2	A	G	17: 3,465,231 (GRCm39)	Y320C	probably damaging	Het
Toporsl	T	C	4: 52,611,469 (GRCm39)	I454T	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Unc13c	A	T	9: 73,466,238 (GRCm39)	S1810T	probably benign	Het
Vmn1r56	A	T	7: 5,199,122 (GRCm39)	I165K	probably benign	Het
Wnt8b	A	G	19: 44,499,757 (GRCm39)	T169A	possibly damaging	Het
Wrap73	T	C	4: 154,239,099 (GRCm39)		probably null	Het
Wwc2	A	G	8: 48,317,096 (GRCm39)	I703T	unknown	Het
Zfp354a	T	A	11: 50,961,432 (GRCm39)	C546S	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
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
R9174:Ubap1l	UTSW	9	65,284,289 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTACAACACTGGCCGCTAC -3'
(R):5'- CCAGTCTTCTCCATGGAAGTTAG -3'

Sequencing Primer
(F):5'- TGTGAGGGCCACCACATAG -3'
(R):5'- AAGTTAGTGACTTGTTTCACACTCC -3'

Posted On

2017-01-03