Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Mup8'

558330

Institutional Source

Beutler Lab

Gene Symbol

Mup8

Ensembl Gene

ENSMUSG00000078687

Gene Name

major urinary protein 8

Synonyms

Gm12809

MMRRC Submission

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R7172 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60218621-60222599 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 60222425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 15 (C15*)

Ref Sequence

ENSEMBL: ENSMUSP00000092668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095058] [ENSMUST00000163931]

AlphaFold

E9PVW0

Predicted Effect

probably null
Transcript: ENSMUST00000095058
AA Change: C15*

SMART Domains

Protein: ENSMUSP00000092668
Gene: ENSMUSG00000078687
AA Change: C15*

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Lipocalin	34	173	1.1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163931
AA Change: C15*

SMART Domains

Protein: ENSMUSP00000128910
Gene: ENSMUSG00000078687
AA Change: C15*

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Lipocalin	34	173	3.1e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,638,318	Y33F	probably damaging	Het
Abca4	C	T	3: 122,103,540	Q623*	probably null	Het
Abcb1a	A	T	5: 8,702,399	I457F	probably benign	Het
Abcb9	G	A	5: 124,062,806	Q716*	probably null	Het
Abhd15	T	C	11: 77,515,296	V33A	probably benign	Het
Abl2	A	G	1: 156,622,587	D108G	probably damaging	Het
Adamts3	G	A	5: 89,883,001		probably benign	Het
Atmin	G	T	8: 116,956,542	V314L	probably damaging	Het
Axl	G	T	7: 25,786,974	Q102K	probably benign	Het
B020004J07Rik	A	G	4: 101,836,996	V230A	probably benign	Het
Cdhr5	A	G	7: 141,271,928	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,105,494	A126D	probably damaging	Het
Col25a1	A	T	3: 130,570,332	K537*	probably null	Het
Cxcl2	A	G	5: 90,904,020	T26A	probably benign	Het
Dcc	T	C	18: 71,378,684	T887A	probably benign	Het
Dhx36	T	C	3: 62,501,015	D134G	probably benign	Het
Dnah17	T	A	11: 118,041,131	K3672*	probably null	Het
Fadd	G	T	7: 144,582,171	H73Q	probably benign	Het
Fam35a	G	A	14: 34,237,568	T819I	probably damaging	Het
Fancm	A	G	12: 65,106,054	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,085,546	S789P	probably damaging	Het
Glis2	G	A	16: 4,613,475	V289I	probably benign	Het
Gm17728	A	C	17: 9,422,388	D110A	probably damaging	Het
Gm9602	T	A	14: 4,777,282	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,939,681	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,880,069		probably null	Het
Gps2	C	T	11: 69,916,436	T306I	probably benign	Het
Hmcn1	A	G	1: 150,753,699	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,204,296	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,573,494	A145S	probably benign	Het
Impdh2	G	T	9: 108,560,610	C26F	probably benign	Het
Kcnh6	T	C	11: 106,020,274	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,526,623	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,360,660	M1K	probably null	Het
Klk1b11	A	T	7: 43,999,247	D194V	possibly damaging	Het
Lama1	A	G	17: 67,804,545	I2264V		Het
Lmntd2	A	G	7: 141,213,641	S111P	unknown	Het
Megf8	T	C	7: 25,343,667	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,325,535	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,644,788	C23S	probably benign	Het
Myh2	A	T	11: 67,188,701	T995S	probably benign	Het
Myo1d	C	T	11: 80,592,795	V863I	probably benign	Het
N4bp1	A	G	8: 86,860,424		probably null	Het
Nat10	G	T	2: 103,732,969	P562T	probably damaging	Het
Nedd9	C	G	13: 41,316,804	R291P	probably benign	Het
Nlrc3	G	T	16: 3,963,753	H613Q	probably benign	Het
Ntn1	A	T	11: 68,385,667	C152S	probably damaging	Het
Olfr332	T	A	11: 58,489,745	I337F	unknown	Het
Pam	A	T	1: 97,834,478	D793E	probably benign	Het
Patz1	T	G	11: 3,308,032	V631G	probably benign	Het
Pcdh15	G	A	10: 74,502,765	V1068M	probably damaging	Het
Prmt5	A	G	14: 54,514,886	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,432,636	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,733,586	S220R	probably benign	Het
Rdh7	T	G	10: 127,888,349	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,826,220	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,661,657	N3783I	probably damaging	Het
Slit1	A	G	19: 41,634,666	L644P	probably damaging	Het
Steap2	A	G	5: 5,682,896	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420		probably null	Het
Tbc1d9	A	G	8: 83,254,761	M686V	probably damaging	Het
Tdrp	G	A	8: 13,974,579	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,696,020	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,248,335	V757E	probably benign	Het
Trim10	A	G	17: 36,870,063	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,388,766	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,107,404	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,799,134	N68D	probably damaging	Het
Wdr83	A	G	8: 85,079,824	V115A	probably damaging	Het
Zdhhc17	A	G	10: 111,009,948	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,670,408	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,122,002	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,234,409	R133S	probably benign	Het
Zscan20	G	T	4: 128,585,676	C1007*	probably null	Het

Other mutations in Mup8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02442:Mup8	APN	4	60219695	missense	probably damaging	0.99
IGL03102:Mup8	APN	4	60219746	missense	probably benign	0.29
IGL03291:Mup8	APN	4	60221950	missense	probably damaging	0.99
R5159:Mup8	UTSW	4	60221062	missense	probably benign	0.34
R5371:Mup8	UTSW	4	60222423	missense	probably benign	0.00
R6006:Mup8	UTSW	4	60220403	missense	probably benign	0.43
R6407:Mup8	UTSW	4	60220394	missense	possibly damaging	0.78
R6931:Mup8	UTSW	4	60220322	missense	probably damaging	1.00
R7607:Mup8	UTSW	4	60222035	missense	probably benign	0.01
R7757:Mup8	UTSW	4	60220332	missense	probably benign	0.14
R7757:Mup8	UTSW	4	60220333	missense	probably benign	0.03
R7874:Mup8	UTSW	4	60222420	missense	probably damaging	0.99
R8349:Mup8	UTSW	4	60222382	missense	probably benign
R8449:Mup8	UTSW	4	60222382	missense	probably benign
R9283:Mup8	UTSW	4	60221903	missense	probably benign
R9306:Mup8	UTSW	4	60219682	missense	possibly damaging	0.65
Z1176:Mup8	UTSW	4	60222378	missense	probably benign	0.01
Z1176:Mup8	UTSW	4	60222542	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCTGGATCCATTCATTTGTCTAAG -3'
(R):5'- TCCACAAAGCCTGACAGAGG -3'

Sequencing Primer
(F):5'- TGTCTAAGAGATTGGGGCACTATACC -3'
(R):5'- GTCCTGACAGACAGACAA -3'

Posted On

2019-06-26