Mutagenetix > Incidental Mutation

Incidental Mutation 'R9635:Ubxn6'

725774

Institutional Source

Beutler Lab

Gene Symbol

Ubxn6

Ensembl Gene

ENSMUSG00000019578

Gene Name

UBX domain protein 6

Synonyms

Ubxd1, Ubxdc2, 1200008L11Rik, 2210415J11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R9635 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56374045-56382028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56376189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 349 (L349P)

Ref Sequence

ENSEMBL: ENSMUSP00000019722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002914] [ENSMUST00000019722] [ENSMUST00000139371]

AlphaFold

Q99PL6

Predicted Effect

probably benign
Transcript: ENSMUST00000002914

SMART Domains

Protein: ENSMUSP00000002914
Gene: ENSMUSG00000002835

Domain	Start	End	E-Value	Type
Pfam:CAF1-p150_N	1	210	3.8e-59	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:CAF-1_p150	299	458	1e-49	PFAM
low complexity region	466	481	N/A	INTRINSIC
Pfam:CAF1A	537	611	1.1e-25	PFAM
Pfam:CAF1-p150_C2	644	908	1.6e-121	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000019722
AA Change: L349P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019722
Gene: ENSMUSG00000019578
AA Change: L349P

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
Pfam:PUB	168	255	1.6e-27	PFAM
UBX	329	410	1.03e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139371

SMART Domains

Protein: ENSMUSP00000120423
Gene: ENSMUSG00000019578

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:PUB	113	154	6.8e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	T	5: 4,100,545 (GRCm39)	T2736S	probably benign	Het
AW209491	T	C	13: 14,811,957 (GRCm39)	V270A	probably benign	Het
Best3	A	T	10: 116,838,450 (GRCm39)	K169N	probably damaging	Het
Cabyr	A	G	18: 12,883,816 (GRCm39)	K101R	probably damaging	Het
Cfhr4	C	T	1: 139,701,764 (GRCm39)	V117I	probably damaging	Het
Chd5	A	T	4: 152,461,079 (GRCm39)	D1223V	possibly damaging	Het
Commd2	T	C	3: 57,559,064 (GRCm39)	D4G	probably benign	Het
Cox5b-ps	T	C	13: 21,685,294 (GRCm39)	T99A	probably benign	Het
Cyp3a41a	A	T	5: 145,652,320 (GRCm39)	F60I	possibly damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dnmbp	C	A	19: 43,855,974 (GRCm39)	A261S	probably benign	Het
Fcgbp	A	C	7: 27,800,832 (GRCm39)	T1293P	probably benign	Het
Gal3st2b	A	C	1: 93,868,777 (GRCm39)	N336T	probably benign	Het
Gm10309	T	C	17: 86,806,494 (GRCm39)	T7A	unknown	Het
Gm10322	A	T	10: 59,451,931 (GRCm39)	H16L	possibly damaging	Het
Gpr17	A	G	18: 32,080,199 (GRCm39)	L288P	probably damaging	Het
Ighe	T	C	12: 113,235,899 (GRCm39)	I142M		Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Lrrk2	T	A	15: 91,696,527 (GRCm39)	D2438E	probably benign	Het
Map3k20	G	A	2: 72,232,403 (GRCm39)	S353N	possibly damaging	Het
Moxd2	T	A	6: 40,863,000 (GRCm39)	D102V	possibly damaging	Het
Obscn	T	C	11: 58,972,686 (GRCm39)	E2120G	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,267 (GRCm39)	C223*	probably null	Het
Or5p79	A	G	7: 108,221,654 (GRCm39)	I212V	probably benign	Het
Or6c5c	T	C	10: 129,299,463 (GRCm39)	V306A	probably benign	Het
Pcdhb5	A	T	18: 37,454,510 (GRCm39)	T297S	probably benign	Het
Pdcd2l	A	C	7: 33,892,356 (GRCm39)	L171R	possibly damaging	Het
Ppp4r3b	T	C	11: 29,138,113 (GRCm39)	S154P	probably benign	Het
Prc1	T	G	7: 79,962,047 (GRCm39)	M515R	probably benign	Het
Rbm34	A	G	8: 127,696,872 (GRCm39)	S77P	probably damaging	Het
Samsn1	T	G	16: 75,673,457 (GRCm39)	T140P	probably damaging	Het
Slc34a1	G	A	13: 55,556,940 (GRCm39)	V379M	probably damaging	Het
Stab2	T	A	10: 86,686,651 (GRCm39)	R2298*	probably null	Het
Trim10	G	A	17: 37,187,890 (GRCm39)	V369M	probably damaging	Het
Trpv6	T	C	6: 41,599,901 (GRCm39)	N585S	possibly damaging	Het
Ttn	C	T	2: 76,586,617 (GRCm39)	D21765N	possibly damaging	Het
Vdac3	A	T	8: 23,077,575 (GRCm39)	S37R	probably damaging	Het
Vmn1r124	G	A	7: 20,993,720 (GRCm39)	L275F	probably benign	Het
Wdr17	A	T	8: 55,101,375 (GRCm39)	I964N	probably damaging	Het
Zdhhc22	A	G	12: 87,030,396 (GRCm39)	F184S	possibly damaging	Het
Zfp512	A	G	5: 31,623,669 (GRCm39)	H124R	probably benign	Het
Zswim4	T	C	8: 84,939,354 (GRCm39)	T843A	probably damaging	Het

Other mutations in Ubxn6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1445:Ubxn6	UTSW	17	56,376,042 (GRCm39)	missense	probably benign	0.13
R1514:Ubxn6	UTSW	17	56,376,003 (GRCm39)	missense	probably benign	0.01
R1970:Ubxn6	UTSW	17	56,380,077 (GRCm39)	missense	possibly damaging	0.73
R3442:Ubxn6	UTSW	17	56,376,049 (GRCm39)	missense	probably benign	0.34
R4097:Ubxn6	UTSW	17	56,376,712 (GRCm39)	missense	probably benign	0.18
R4411:Ubxn6	UTSW	17	56,376,303 (GRCm39)	missense	probably damaging	1.00
R4413:Ubxn6	UTSW	17	56,376,303 (GRCm39)	missense	probably damaging	1.00
R5609:Ubxn6	UTSW	17	56,376,745 (GRCm39)	missense	probably benign	0.40
R6747:Ubxn6	UTSW	17	56,377,650 (GRCm39)	critical splice donor site	probably null
R8072:Ubxn6	UTSW	17	56,380,195 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACACTCATTCAAGGCCAGGG -3'
(R):5'- GGCAGTTCATGGGGCATTAG -3'

Sequencing Primer
(F):5'- AGCTTCTGTCCACCGGAG -3'
(R):5'- CATTAGCTTGGGAGGCCTGAC -3'

Posted On

2022-09-12