Mutagenetix > Incidental Mutation

Incidental Mutation 'R6174:Ubn2'

488189

Institutional Source

Beutler Lab

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

2900060J04Rik, D130059P03Rik, 6030408G03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R6174 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38410860-38489698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38438471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 60 (G60D)

Ref Sequence

ENSEMBL: ENSMUSP00000124352 (fasta)

Gene Model

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

AlphaFold

Q80WC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039127
AA Change: G228D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: G228D

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 damaging
Transcript: ENSMUST00000160583
AA Change: G228D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: G228D

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

noncoding transcript
Transcript: ENSMUST00000161280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162026

Predicted Effect

probably damaging
Transcript: ENSMUST00000162593
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: G60D

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: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,919,517 (GRCm39)	D725E	probably damaging	Het
Bco1	T	A	8: 117,840,273 (GRCm39)	Y264N	probably damaging	Het
Cd109	G	A	9: 78,572,828 (GRCm39)		probably null	Het
Cdc45	T	C	16: 18,613,454 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,398,564 (GRCm39)	E578G	probably benign	Het
Cracr2b	T	A	7: 141,044,749 (GRCm39)	L193Q	probably damaging	Het
Dmxl2	G	A	9: 54,301,011 (GRCm39)	L2367F	probably damaging	Het
Dop1b	T	G	16: 93,563,110 (GRCm39)	D871E	probably damaging	Het
Emc1	T	C	4: 139,093,842 (GRCm39)	Y651H	probably benign	Het
Enox1	T	C	14: 77,745,627 (GRCm39)	S41P	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,384 (GRCm39)	Y399C	probably damaging	Het
Foxa1	A	G	12: 57,589,686 (GRCm39)	L178P	probably damaging	Het
Gm57859	C	A	11: 113,579,801 (GRCm39)	H399N	possibly damaging	Het
Grm7	T	A	6: 111,223,258 (GRCm39)	Y433N	probably benign	Het
Gsta5	T	A	9: 78,211,737 (GRCm39)	Y166*	probably null	Het
Gtf3c2	G	A	5: 31,315,555 (GRCm39)	R813C	probably damaging	Het
H4c9	T	A	13: 22,225,247 (GRCm39)	T83S	probably benign	Het
Hacd3	T	C	9: 64,912,909 (GRCm39)	E117G	probably damaging	Het
Hmcn1	G	A	1: 150,522,535 (GRCm39)	T3455M	probably benign	Het
Itga6	A	G	2: 71,664,053 (GRCm39)	I61V	possibly damaging	Het
Jaml	T	C	9: 45,000,071 (GRCm39)	L81P	probably damaging	Het
Loxhd1	T	C	18: 77,499,874 (GRCm39)	F782S	probably damaging	Het
Lrp1b	T	C	2: 41,339,275 (GRCm39)	H742R	probably benign	Het
Macrod2	G	T	2: 140,242,895 (GRCm39)	M1I	probably null	Het
Mcf2l	G	A	8: 13,063,849 (GRCm39)	W1020*	probably null	Het
Msgn1	A	G	12: 11,258,924 (GRCm39)	L9P	probably damaging	Het
Ngdn	C	A	14: 55,259,556 (GRCm39)	S202R	probably benign	Het
Notch1	C	T	2: 26,375,454 (GRCm39)	G50R	possibly damaging	Het
Or14c46	A	T	7: 85,918,009 (GRCm39)	D329E	probably benign	Het
Or1a1b	A	T	11: 74,097,466 (GRCm39)	I192N	probably damaging	Het
Or2d2b	A	T	7: 106,705,714 (GRCm39)	M118K	probably damaging	Het
Or5d14	A	T	2: 87,880,646 (GRCm39)	C107*	probably null	Het
Osbpl10	A	G	9: 114,938,555 (GRCm39)	S211G	probably benign	Het
Pabpc6	G	A	17: 9,887,084 (GRCm39)	A489V	probably benign	Het
Pcdhb13	A	T	18: 37,576,474 (GRCm39)	D284V	possibly damaging	Het
Pde6c	T	C	19: 38,128,677 (GRCm39)	S214P	possibly damaging	Het
Pofut1	C	T	2: 153,101,536 (GRCm39)	H192Y	probably damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Prc1	G	A	7: 79,954,544 (GRCm39)	S165N	probably benign	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Ptpru	T	C	4: 131,513,065 (GRCm39)	I881V	probably benign	Het
Radil	A	G	5: 142,472,870 (GRCm39)	S847P	probably benign	Het
Rimklb	A	G	6: 122,433,371 (GRCm39)	S317P	probably damaging	Het
Sdhc	A	T	1: 170,966,271 (GRCm39)	L78*	probably null	Het
Skint6	T	A	4: 112,696,510 (GRCm39)	I1042F	possibly damaging	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slc29a1	A	T	17: 45,900,854 (GRCm39)	H71Q	probably damaging	Het
Slfn14	A	T	11: 83,167,429 (GRCm39)	D695E	probably damaging	Het
Spg11	A	T	2: 121,917,286 (GRCm39)		probably null	Het
Srgap2	A	G	1: 131,217,354 (GRCm39)	V986A	probably benign	Het
Stab1	A	T	14: 30,884,476 (GRCm39)	C172*	probably null	Het
Tigd4	A	G	3: 84,502,574 (GRCm39)	H497R	probably benign	Het
Uckl1	C	T	2: 181,214,866 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,793,236 (GRCm39)	K854N	probably benign	Het
Vps13d	G	A	4: 144,701,763 (GRCm39)	Q3193*	probably null	Het
Wdr26	G	A	1: 181,019,433 (GRCm39)	L315F	probably damaging	Het
Zc3h8	C	A	2: 128,785,775 (GRCm39)	E24*	probably null	Het
Zfp39	A	G	11: 58,782,213 (GRCm39)	V183A	probably benign	Het
Zfp608	C	A	18: 55,121,616 (GRCm39)		probably benign	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
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
R9781:Ubn2	UTSW	6	38,466,190 (GRCm39)	missense	probably benign
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'- TCATCCTCTTTGGGAGTATGC -3'
(R):5'- AGCATACAAGAATACCTGGGC -3'

Sequencing Primer
(F):5'- CCTCTTTGGGAGTATGCCTCGTAG -3'
(R):5'- CACTGAGATGTCAAACTCAC -3'

Posted On

2017-10-10