Mutagenetix > Incidental Mutation

Incidental Mutation 'R5747:Mob4'

445802

Institutional Source

Beutler Lab

Gene Symbol

Mob4

Ensembl Gene

ENSMUSG00000025979

Gene Name

MOB family member 4, phocein

Synonyms

Prei3, 2610109B12Rik, Mobkl3

MMRRC Submission

043354-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55170404-55194058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55187737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 68 (M68V)

Ref Sequence

ENSEMBL: ENSMUSP00000124151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027122] [ENSMUST00000159311] [ENSMUST00000161122] [ENSMUST00000162364] [ENSMUST00000162553]

AlphaFold

Q6PEB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027122
AA Change: M58V

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

SMART Domains

Protein: ENSMUSP00000027122
Gene: ENSMUSG00000025979
AA Change: M58V

Domain	Start	End	E-Value	Type
Pfam:Mob1_phocein	28	168	1.2e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159311
AA Change: M79V

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

SMART Domains

Protein: ENSMUSP00000124790
Gene: ENSMUSG00000025979
AA Change: M79V

Domain	Start	End	E-Value	Type
Pfam:Mob1_phocein	19	189	9.3e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159743

Predicted Effect

probably benign
Transcript: ENSMUST00000161122

Predicted Effect

probably damaging
Transcript: ENSMUST00000162364
AA Change: M100V

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

SMART Domains

Protein: ENSMUSP00000125415
Gene: ENSMUSG00000025979
AA Change: M100V

Domain	Start	End	E-Value	Type
Mob1_phocein	42	209	1.89e-58	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162553
AA Change: M68V

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

SMART Domains

Protein: ENSMUSP00000124151
Gene: ENSMUSG00000025979
AA Change: M68V

Domain	Start	End	E-Value	Type
Pfam:Mob1_phocein	8	178	3.9e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187422

Meta Mutation Damage Score

0.7380

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	T	1: 25,865,643 (GRCm39)	Y67N	probably damaging	Het
Akap8l	T	C	17: 32,564,352 (GRCm39)	T12A	probably damaging	Het
Anapc1	A	G	2: 128,466,836 (GRCm39)	V1620A	probably benign	Het
Ank2	A	G	3: 126,735,400 (GRCm39)		probably benign	Het
Ankrd34c	C	T	9: 89,611,814 (GRCm39)	V176M	possibly damaging	Het
Arhgap39	C	T	15: 76,625,735 (GRCm39)	D190N	possibly damaging	Het
Cbl	A	G	9: 44,112,416 (GRCm39)	L93P	probably damaging	Het
Crebl2	C	T	6: 134,828,103 (GRCm39)	L92F	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dzip1l	T	A	9: 99,521,862 (GRCm39)		probably null	Het
Echs1	T	C	7: 139,691,725 (GRCm39)		probably benign	Het
Eif1ad16	C	T	12: 87,985,366 (GRCm39)	C59Y	possibly damaging	Het
Epha4	A	G	1: 77,483,520 (GRCm39)	I163T	probably damaging	Het
Fdft1	A	G	14: 63,384,288 (GRCm39)	S388P	probably damaging	Het
Gbx2	A	G	1: 89,856,437 (GRCm39)	S318P	probably damaging	Het
Gkn1	T	A	6: 87,323,319 (GRCm39)	T165S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5093	T	G	17: 46,750,916 (GRCm39)	E37A	possibly damaging	Het
Gm527	A	T	12: 64,967,620 (GRCm39)	N14I	probably damaging	Het
Gnaz	C	T	10: 74,827,235 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,399,870 (GRCm39)	T287A	probably benign	Het
Gtf2h4	T	C	17: 35,981,273 (GRCm39)	Y220C	possibly damaging	Het
Igkv8-28	T	C	6: 70,121,141 (GRCm39)	E2G	probably benign	Het
Itgbl1	T	A	14: 124,209,576 (GRCm39)	Y318*	probably null	Het
Kcnh5	T	C	12: 74,945,194 (GRCm39)	E685G	probably benign	Het
Kctd18	A	T	1: 58,001,183 (GRCm39)		probably benign	Het
Ldhal6b	A	C	17: 5,468,094 (GRCm39)	V280G	probably damaging	Het
Ldhd	T	C	8: 112,355,703 (GRCm39)	T182A	probably damaging	Het
Lman2l	T	C	1: 36,464,038 (GRCm39)	D272G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,904 (GRCm39)	T76A	probably benign	Het
Map3k3	A	G	11: 106,041,236 (GRCm39)	T402A	probably benign	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Or1j15	A	T	2: 36,458,979 (GRCm39)	Y123F	probably damaging	Het
Rassf8	A	G	6: 145,761,541 (GRCm39)	E289G	probably benign	Het
Rnf17	T	C	14: 56,703,276 (GRCm39)		probably null	Het
Rp9	A	G	9: 22,359,960 (GRCm39)		probably benign	Het
Rrm2b	T	C	15: 37,927,634 (GRCm39)	Q92R	probably benign	Het
Sema6d	C	T	2: 124,506,867 (GRCm39)	P879S	probably damaging	Het
Slc27a2	T	A	2: 126,406,658 (GRCm39)	M114K	probably benign	Het
Slc4a5	T	A	6: 83,248,011 (GRCm39)	Y521N	probably damaging	Het
Slc6a4	A	T	11: 76,901,337 (GRCm39)	N24I	probably damaging	Het
Spata13	T	A	14: 60,984,952 (GRCm39)	D815E	probably benign	Het
Spocd1	A	G	4: 129,848,738 (GRCm39)	D656G	probably damaging	Het
Susd1	T	A	4: 59,424,108 (GRCm39)	N39I	probably damaging	Het
Vps13d	G	A	4: 144,894,853 (GRCm39)	T417I	probably benign	Het
Wdr31	C	T	4: 62,381,637 (GRCm39)	V65I	probably damaging	Het
Zfp783	T	C	6: 47,925,829 (GRCm39)		probably benign	Het

Other mutations in Mob4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03340:Mob4	APN	1	55,175,867 (GRCm39)	missense	possibly damaging	0.50
Infinite	UTSW	1	55,187,479 (GRCm39)	nonsense	probably null
Mobius	UTSW	1	55,191,881 (GRCm39)	nonsense	probably null
R4756:Mob4	UTSW	1	55,191,855 (GRCm39)	missense	probably damaging	0.98
R4831:Mob4	UTSW	1	55,191,899 (GRCm39)	missense	probably benign	0.01
R4832:Mob4	UTSW	1	55,184,411 (GRCm39)	intron	probably benign
R4876:Mob4	UTSW	1	55,191,995 (GRCm39)	unclassified	probably benign
R4972:Mob4	UTSW	1	55,190,161 (GRCm39)	missense	possibly damaging	0.96
R6717:Mob4	UTSW	1	55,175,872 (GRCm39)	missense	possibly damaging	0.91
R6774:Mob4	UTSW	1	55,187,588 (GRCm39)	splice site	probably null
R6925:Mob4	UTSW	1	55,191,881 (GRCm39)	nonsense	probably null
R7447:Mob4	UTSW	1	55,170,625 (GRCm39)	start gained	probably benign
R7721:Mob4	UTSW	1	55,187,479 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGCTGTCAAACTTCAGGTAG -3'
(R):5'- ATCTCCACGGGTGCATGTAC -3'

Sequencing Primer
(F):5'- GCTGTCAAACTTCAGGTAGTATTTTC -3'
(R):5'- CCAAGGGCTTATCTCCTGAAGATG -3'

Posted On

2016-11-21