Mutagenetix > Incidental Mutation

Incidental Mutation 'R3434:Mup6'

266335

Institutional Source

Beutler Lab

Gene Symbol

Mup6

Ensembl Gene

ENSMUSG00000078689

Gene Name

major urinary protein 6

Synonyms

Gm12544

MMRRC Submission

040652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59964294-60007274 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 60004116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107517] [ENSMUST00000107520] [ENSMUST00000107521]

AlphaFold

A2AV72

Predicted Effect

probably null
Transcript: ENSMUST00000107517

SMART Domains

Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lipocalin	33	172	1.6e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107520

SMART Domains

Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lipocalin	33	172	1.6e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107521

SMART Domains

Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	25	164	1.4e-35	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,289,537	A1008V	probably damaging	Het
Adora3	A	G	3: 105,904,915	K39R	probably benign	Het
Ankib1	A	G	5: 3,692,760	V1085A	probably damaging	Het
Atp7a	G	A	X: 106,094,857	R563K	probably benign	Het
Azin1	T	C	15: 38,493,576	I268V	probably benign	Het
Carm1	T	C	9: 21,569,473	F81S	probably damaging	Het
Ccnjl	A	G	11: 43,579,861	Y152C	probably damaging	Het
Chrna3	T	A	9: 55,024,326	I61F	possibly damaging	Het
Clca3a2	G	A	3: 144,808,761		probably benign	Het
Clstn2	T	A	9: 97,454,715	D903V	probably benign	Het
Dpysl3	C	T	18: 43,361,061	V70I	probably benign	Het
Drg2	A	T	11: 60,461,392	K180*	probably null	Het
Dync2h1	A	C	9: 7,011,236	H3659Q	probably benign	Het
Dysf	A	T	6: 84,070,888	Y349F	probably benign	Het
Epb41l4b	T	C	4: 57,040,865	N533D	probably benign	Het
Fam47e	T	A	5: 92,585,362	V152D	probably damaging	Het
Fasn	G	A	11: 120,822,773	A24V	probably damaging	Het
Fhl4	T	C	10: 85,098,444	T158A	probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Hdlbp	A	T	1: 93,428,161	M358K	probably benign	Het
Ift74	A	G	4: 94,621,852		probably null	Het
Lhx4	A	G	1: 155,702,401	Y332H	probably damaging	Het
Mast2	A	T	4: 116,308,095	S1314T	probably benign	Het
Mast4	A	G	13: 102,787,379	I508T	probably damaging	Het
Mdn1	T	C	4: 32,733,726		probably null	Het
Mrps23	A	G	11: 88,210,114	K44E	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Notch3	A	T	17: 32,158,618	D161E	possibly damaging	Het
Olfr1131	T	C	2: 87,629,074	F204L	probably benign	Het
Olfr1200	T	C	2: 88,768,069	D82G	probably damaging	Het
Olfr695	A	T	7: 106,873,769	Y159N	probably benign	Het
P2rx4	T	A	5: 122,725,070	I202K	probably damaging	Het
Phykpl	A	G	11: 51,598,655	T363A	probably benign	Het
Pitpnm1	G	A	19: 4,112,234	A1047T	probably damaging	Het
Ppat	A	G	5: 76,918,065	I402T	probably damaging	Het
Rpgr	A	G	X: 10,176,602	S656P	probably benign	Het
Rsbn1l	T	C	5: 20,905,930		probably benign	Het
Sacs	A	G	14: 61,212,303	K3933E	probably damaging	Het
Scn7a	T	C	2: 66,675,503	I1681V	probably benign	Het
Sel1l3	T	C	5: 53,117,090	D1016G	probably benign	Het
Sf3a3	C	A	4: 124,725,077	T277N	possibly damaging	Het
Slc35a5	A	G	16: 45,144,033	I279T	probably benign	Het
Slc39a10	T	C	1: 46,835,717	T142A	probably benign	Het
Tle3	T	A	9: 61,414,094		probably null	Het
Tmem117	T	C	15: 95,094,692	I411T	probably damaging	Het
Ttn	T	C	2: 76,868,377	T5A	possibly damaging	Het
Tubgcp3	T	C	8: 12,658,381		probably null	Het
Ush2a	C	T	1: 188,733,758	P2841L	probably damaging	Het
Vmn1r209	A	T	13: 22,806,097	M141K	probably benign	Het
Vmn2r91	A	T	17: 18,110,108		probably benign	Het

Other mutations in Mup6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Mup6	APN	4	60006001	missense	probably damaging	1.00
IGL01333:Mup6	APN	4	60005529	missense	probably damaging	1.00
IGL01608:Mup6	APN	4	60006021	missense	probably benign	0.34
IGL02471:Mup6	APN	4	60003971	splice site	probably benign
IGL02932:Mup6	APN	4	60006009	missense	probably damaging	1.00
IGL03070:Mup6	APN	4	60003999	missense	probably damaging	1.00
IGL03108:Mup6	APN	4	60005990	missense	possibly damaging	0.55
IGL03158:Mup6	APN	4	60005480	missense	possibly damaging	0.83
R0122:Mup6	UTSW	4	60003995	nonsense	probably null
R1271:Mup6	UTSW	4	60003579	intron	probably benign
R3435:Mup6	UTSW	4	60004116	splice site	probably null
R4258:Mup6	UTSW	4	60004812	critical splice acceptor site	probably null
R4465:Mup6	UTSW	4	60004000	missense	probably damaging	1.00
R4466:Mup6	UTSW	4	60004000	missense	probably damaging	1.00
R5021:Mup6	UTSW	4	59964352	missense	probably damaging	0.99
R5272:Mup6	UTSW	4	60005922	missense	probably damaging	0.99
R6396:Mup6	UTSW	4	60004837	missense	possibly damaging	0.84
R6861:Mup6	UTSW	4	60004093	missense	probably benign	0.02
R7818:Mup6	UTSW	4	60004884	missense	probably benign	0.05
R8238:Mup6	UTSW	4	60003634	missense	probably damaging	1.00
R9294:Mup6	UTSW	4	60004838	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACATGCATGTGGTATCCCTGC -3'
(R):5'- TCCTAGTGAATTAATTCCTGTCACC -3'

Sequencing Primer
(F):5'- GCATGTGGTATCCCTGCTTCTTC -3'
(R):5'- AGTGAATTAATTCCTGTCACCAATTC -3'

Posted On

2015-02-18