Mutagenetix > Incidental Mutation

Incidental Mutation 'R9781:Ubn2'

734043

Institutional Source

Beutler Lab

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

2900060J04Rik, D130059P03Rik, 6030408G03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R9781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38410860-38489698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 38466190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 508 (A508E)

Ref Sequence

ENSEMBL: ENSMUSP00000124352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039127] [ENSMUST00000160583] [ENSMUST00000162593]

AlphaFold

Q80WC1

Predicted Effect

probably benign
Transcript: ENSMUST00000039127

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	34	57	N/A	INTRINSIC
low complexity region	74	109	N/A	INTRINSIC
Pfam:HUN	180	231	4.8e-22	PFAM
low complexity region	256	285	N/A	INTRINSIC
low complexity region	294	309	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
Pfam:UBN_AB	434	650	6.4e-80	PFAM
low complexity region	687	717	N/A	INTRINSIC
low complexity region	822	833	N/A	INTRINSIC
low complexity region	846	881	N/A	INTRINSIC
low complexity region	1002	1042	N/A	INTRINSIC
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1180	1199	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC
low complexity region	1280	1297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159447

SMART Domains

Protein: ENSMUSP00000123836
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	119	159	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160583

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	34	57	N/A	INTRINSIC
low complexity region	74	109	N/A	INTRINSIC
Pfam:HUN	178	232	3.8e-23	PFAM
low complexity region	256	285	N/A	INTRINSIC
low complexity region	294	309	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
Pfam:UBN_AB	434	650	2.9e-86	PFAM
low complexity region	685	715	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
low complexity region	844	879	N/A	INTRINSIC
low complexity region	1000	1040	N/A	INTRINSIC
low complexity region	1154	1166	N/A	INTRINSIC
low complexity region	1178	1197	N/A	INTRINSIC
low complexity region	1245	1261	N/A	INTRINSIC
low complexity region	1278	1295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162593
AA Change: A508E

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

SMART Domains

Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: A508E

Domain	Start	End	E-Value	Type
Pfam:HUN	10	64	4.4e-24	PFAM
low complexity region	88	117	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
low complexity region	160	177	N/A	INTRINSIC
low complexity region	221	231	N/A	INTRINSIC
Pfam:UBN_AB	266	482	3.1e-87	PFAM
low complexity region	534	564	N/A	INTRINSIC
low complexity region	669	680	N/A	INTRINSIC
low complexity region	693	728	N/A	INTRINSIC
low complexity region	849	889	N/A	INTRINSIC
low complexity region	1003	1015	N/A	INTRINSIC
low complexity region	1027	1039	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,519,860 (GRCm39)	F1386L	probably benign	Het
Aoc1l2	G	A	6: 48,907,660 (GRCm39)	S220N	possibly damaging	Het
Ap3d1	A	C	10: 80,545,609 (GRCm39)	L1040R	possibly damaging	Het
Bag4	T	A	8: 26,259,564 (GRCm39)	N212Y	probably damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car12	T	G	9: 66,624,844 (GRCm39)	S30A	probably benign	Het
Ccdc14	A	T	16: 34,543,984 (GRCm39)	T829S	possibly damaging	Het
Ccn6	T	A	10: 39,027,167 (GRCm39)	*355L	probably null	Het
Cdc14a	A	T	3: 116,122,274 (GRCm39)	I231N	probably benign	Het
Ceacam14	A	T	7: 17,549,082 (GRCm39)	I158F	possibly damaging	Het
Clca4a	G	T	3: 144,667,713 (GRCm39)	S419R	probably benign	Het
Clec2g	A	G	6: 128,960,012 (GRCm39)	N258D	probably benign	Het
Cntn5	A	C	9: 10,048,686 (GRCm39)		probably null	Het
Col5a3	T	A	9: 20,721,272 (GRCm39)	S72C	unknown	Het
Dmbt1	G	C	7: 130,639,599 (GRCm39)	V46L	probably benign	Het
Dnah7b	A	G	1: 46,376,754 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,857,054 (GRCm39)	S204P	probably benign	Het
Dnhd1	A	G	7: 105,352,917 (GRCm39)	E2690G	probably benign	Het
Dst	T	C	1: 34,218,075 (GRCm39)	L1505P	probably benign	Het
Dzip1	G	A	14: 119,148,834 (GRCm39)	L282F	probably benign	Het
E330034G19Rik	A	G	14: 24,359,528 (GRCm39)	E313G	unknown	Het
Epc1	A	T	18: 6,455,187 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,280,004 (GRCm39)	M304T	probably benign	Het
Herc2	A	T	7: 55,750,096 (GRCm39)	I594F	possibly damaging	Het
Hivep2	T	A	10: 14,005,828 (GRCm39)	S809T	probably benign	Het
Hnrnph3	A	T	10: 62,853,861 (GRCm39)	M132K	unknown	Het
Hrnr	A	T	3: 93,239,696 (GRCm39)	R3311S	unknown	Het
Jph3	T	C	8: 122,457,380 (GRCm39)	F7L	probably damaging	Het
Med13l	C	T	5: 118,868,032 (GRCm39)	T732M	possibly damaging	Het
Mocos	A	T	18: 24,828,939 (GRCm39)	H748L	probably benign	Het
Mrc1	A	G	2: 14,249,100 (GRCm39)	H212R	probably benign	Het
Mrc1	A	T	2: 14,310,175 (GRCm39)	Y812F	possibly damaging	Het
Mthfr	T	C	4: 148,132,710 (GRCm39)	I296T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nefh	G	A	11: 4,895,271 (GRCm39)	T306I	probably damaging	Het
Nme7	C	A	1: 164,155,890 (GRCm39)	A30E	possibly damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Pappa	T	A	4: 65,043,104 (GRCm39)	L109Q	possibly damaging	Het
Pcdha2	A	G	18: 37,074,102 (GRCm39)	S578G	probably benign	Het
Pcf11	A	T	7: 92,297,228 (GRCm39)	D1361E	possibly damaging	Het
Pcm1	T	C	8: 41,720,398 (GRCm39)	S320P	probably damaging	Het
Pex19	T	A	1: 171,956,855 (GRCm39)	F105Y	probably damaging	Het
Pgap4	C	T	4: 49,586,890 (GRCm39)	V93I	probably benign	Het
Pggt1b	A	T	18: 46,392,779 (GRCm39)	M124K	probably damaging	Het
Phkg1	T	A	5: 129,895,807 (GRCm39)	H148L	probably damaging	Het
Phlpp2	G	T	8: 110,662,178 (GRCm39)	R855L	possibly damaging	Het
Pkhd1	T	A	1: 20,187,665 (GRCm39)	I3548L	possibly damaging	Het
Plce1	T	G	19: 38,513,654 (GRCm39)	S318A	probably damaging	Het
Plcxd2	A	G	16: 45,830,117 (GRCm39)	W35R	probably benign	Het
Prl2b1	T	A	13: 27,569,129 (GRCm39)	E156D	possibly damaging	Het
Ptpn21	A	G	12: 98,655,170 (GRCm39)	V599A	probably damaging	Het
Raly	T	C	2: 154,699,265 (GRCm39)	V23A	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rhbdl1	A	G	17: 26,055,443 (GRCm39)	V48A	probably benign	Het
Rhpn1	C	T	15: 75,582,543 (GRCm39)	Q212*	probably null	Het
Sec24b	G	T	3: 129,789,742 (GRCm39)	P760T	probably damaging	Het
Septin8	C	A	11: 53,422,889 (GRCm39)	Q33K	probably damaging	Het
Serpinb6a	T	C	13: 34,109,346 (GRCm39)	T150A	probably benign	Het
Shmt1	A	T	11: 60,692,329 (GRCm39)	H142Q	probably damaging	Het
Slc27a3	G	A	3: 90,296,591 (GRCm39)	S127L		Het
Slc4a5	G	A	6: 83,239,466 (GRCm39)	A242T	probably benign	Het
Sphkap	G	A	1: 83,255,772 (GRCm39)	T659I	possibly damaging	Het
Ssbp3	T	C	4: 106,905,224 (GRCm39)	S381P	probably damaging	Het
Stxbp5l	C	T	16: 37,165,485 (GRCm39)	D78N	probably benign	Het
Suv39h2	G	T	2: 3,463,631 (GRCm39)	Q362K	probably benign	Het
Tcerg1	G	A	18: 42,701,030 (GRCm39)	R828Q	probably damaging	Het
Tgm2	T	G	2: 157,971,321 (GRCm39)	D306A	probably damaging	Het
Tmem79	A	G	3: 88,239,931 (GRCm39)	C260R	possibly damaging	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Wnt16	T	C	6: 22,291,114 (GRCm39)	F181L	probably damaging	Het
Zfp326	T	C	5: 106,062,825 (GRCm39)	F565L	unknown	Het
Zfp62	T	A	11: 49,106,297 (GRCm39)	C129*	probably null	Het

Other mutations in Ubn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Ubn2	APN	6	38,459,540 (GRCm39)	missense	possibly damaging	0.91
IGL03116:Ubn2	APN	6	38,468,834 (GRCm39)	missense	probably damaging	1.00
IGL03150:Ubn2	APN	6	38,440,649 (GRCm39)	missense	probably benign
IGL03382:Ubn2	APN	6	38,417,382 (GRCm39)	unclassified	probably benign
A4554:Ubn2	UTSW	6	38,461,045 (GRCm39)	missense	probably damaging	1.00
R0008:Ubn2	UTSW	6	38,411,535 (GRCm39)	critical splice donor site	probably null
R0034:Ubn2	UTSW	6	38,468,341 (GRCm39)	synonymous	silent
R0121:Ubn2	UTSW	6	38,429,793 (GRCm39)	splice site	probably benign
R0267:Ubn2	UTSW	6	38,459,553 (GRCm39)	critical splice donor site	probably null
R1864:Ubn2	UTSW	6	38,417,425 (GRCm39)	missense	possibly damaging	0.93
R1865:Ubn2	UTSW	6	38,417,425 (GRCm39)	missense	possibly damaging	0.93
R1892:Ubn2	UTSW	6	38,468,226 (GRCm39)	missense	probably damaging	1.00
R2174:Ubn2	UTSW	6	38,447,076 (GRCm39)	splice site	probably null
R2184:Ubn2	UTSW	6	38,461,029 (GRCm39)	missense	probably damaging	1.00
R2212:Ubn2	UTSW	6	38,475,674 (GRCm39)	missense	probably benign	0.03
R2442:Ubn2	UTSW	6	38,467,940 (GRCm39)	missense	probably benign	0.00
R3413:Ubn2	UTSW	6	38,475,674 (GRCm39)	missense	probably benign	0.03
R4725:Ubn2	UTSW	6	38,499,240 (GRCm39)	utr 3 prime	probably benign
R4765:Ubn2	UTSW	6	38,456,075 (GRCm39)	missense	probably damaging	1.00
R4771:Ubn2	UTSW	6	38,464,088 (GRCm39)	splice site	probably null
R4812:Ubn2	UTSW	6	38,440,661 (GRCm39)	missense	probably benign
R4934:Ubn2	UTSW	6	38,467,433 (GRCm39)	missense	probably benign	0.04
R5580:Ubn2	UTSW	6	38,460,187 (GRCm39)	missense	probably damaging	0.99
R5598:Ubn2	UTSW	6	38,467,323 (GRCm39)	missense	probably benign	0.00
R5672:Ubn2	UTSW	6	38,438,462 (GRCm39)	missense	probably damaging	1.00
R5715:Ubn2	UTSW	6	38,438,412 (GRCm39)	nonsense	probably null
R5817:Ubn2	UTSW	6	38,456,088 (GRCm39)	missense	probably damaging	1.00
R5919:Ubn2	UTSW	6	38,468,423 (GRCm39)	missense	possibly damaging	0.50
R5937:Ubn2	UTSW	6	38,440,917 (GRCm39)	missense	possibly damaging	0.74
R6033:Ubn2	UTSW	6	38,447,159 (GRCm39)	critical splice donor site	probably null
R6033:Ubn2	UTSW	6	38,447,159 (GRCm39)	critical splice donor site	probably null
R6174:Ubn2	UTSW	6	38,438,471 (GRCm39)	missense	probably damaging	1.00
R6338:Ubn2	UTSW	6	38,467,649 (GRCm39)	missense	probably benign	0.00
R6653:Ubn2	UTSW	6	38,411,397 (GRCm39)	missense	possibly damaging	0.72
R7282:Ubn2	UTSW	6	38,429,811 (GRCm39)	nonsense	probably null
R7685:Ubn2	UTSW	6	38,468,727 (GRCm39)	missense	probably benign	0.02
R7727:Ubn2	UTSW	6	38,440,873 (GRCm39)	missense	probably benign	0.08
R7777:Ubn2	UTSW	6	38,467,688 (GRCm39)	missense	probably damaging	1.00
R8074:Ubn2	UTSW	6	38,417,475 (GRCm39)	missense	probably benign	0.13
R8218:Ubn2	UTSW	6	38,466,214 (GRCm39)	missense	probably benign	0.01
R8283:Ubn2	UTSW	6	38,475,663 (GRCm39)	missense	probably damaging	1.00
R9339:Ubn2	UTSW	6	38,460,079 (GRCm39)	missense	probably benign	0.17
RF024:Ubn2	UTSW	6	38,440,563 (GRCm39)	missense	probably damaging	1.00
X0010:Ubn2	UTSW	6	38,460,055 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- CATGTGCAAGCATGTGTCC -3'
(R):5'- GCTTACTGTCTCCTACAAGTGAG -3'

Sequencing Primer
(F):5'- CATGTCTACCCCTCATCTGAGCAAG -3'
(R):5'- TACTGTCTCCTACAAGTGAGAAGAC -3'

Posted On

2022-11-14