Mutagenetix > Incidental Mutation

Incidental Mutation 'R7721:Mob4'

595205

Institutional Source

Beutler Lab

Gene Symbol

Mob4

Ensembl Gene

ENSMUSG00000025979

Gene Name

MOB family member 4, phocein

Synonyms

Prei3, 2610109B12Rik, Mobkl3

MMRRC Submission

045777-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7721 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55170404-55194058 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 55187479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 76 (Q76*)

Ref Sequence

ENSEMBL: ENSMUSP00000125415 (fasta)

Gene Model

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

AlphaFold

Q6PEB6

Predicted Effect

probably benign
Transcript: ENSMUST00000027122

SMART Domains

Protein: ENSMUSP00000027122
Gene: ENSMUSG00000025979

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

Predicted Effect

probably null
Transcript: ENSMUST00000159311
AA Change: Q55*

SMART Domains

Protein: ENSMUSP00000124790
Gene: ENSMUSG00000025979
AA Change: Q55*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161122
AA Change: A42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably null
Transcript: ENSMUST00000162364
AA Change: Q76*

SMART Domains

Protein: ENSMUSP00000125415
Gene: ENSMUSG00000025979
AA Change: Q76*

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

Predicted Effect

probably null
Transcript: ENSMUST00000162553
AA Change: Q44*

SMART Domains

Protein: ENSMUSP00000124151
Gene: ENSMUSG00000025979
AA Change: Q44*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	C	5: 121,784,929 (GRCm39)		probably null	Het
Adamtsl3	T	G	7: 82,255,728 (GRCm39)	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,687,942 (GRCm39)	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,207,143 (GRCm39)		probably benign	Het
Ankrd11	G	T	8: 123,621,498 (GRCm39)	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,684,763 (GRCm39)	D796E	probably benign	Het
C1s2	A	G	6: 124,607,017 (GRCm39)	V277A	possibly damaging	Het
Ccdc121rt3	A	G	5: 112,503,383 (GRCm39)	I107T	probably benign	Het
Cldn15	A	G	5: 136,997,015 (GRCm39)	M19V	probably benign	Het
Cldn23	T	G	8: 36,293,417 (GRCm39)	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Csf2ra	A	T	19: 61,215,024 (GRCm39)	W147R	probably damaging	Het
Ctsb	G	T	14: 63,370,765 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,088,874 (GRCm39)	M34T	probably benign	Het
Dmtf1	T	C	5: 9,176,564 (GRCm39)	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,670,842 (GRCm39)	D470V	probably benign	Het
Dtx4	A	G	19: 12,459,500 (GRCm39)	S435P	probably benign	Het
Ear2	T	A	14: 44,340,495 (GRCm39)	M51K	probably damaging	Het
Efcab3	T	A	11: 104,615,366 (GRCm39)	L711*	probably null	Het
Elmo1	T	A	13: 20,464,973 (GRCm39)		probably null	Het
Faf1	T	A	4: 109,593,794 (GRCm39)	I124N	probably damaging	Het
Gkap1	A	C	13: 58,384,799 (GRCm39)		probably null	Het
Glipr2	T	C	4: 43,957,770 (GRCm39)	S4P	probably benign	Het
Gm38119	A	T	3: 92,645,337 (GRCm39)	C86S	unknown	Het
Gpr171	T	G	3: 59,005,320 (GRCm39)	I152L	probably benign	Het
Hes7	T	A	11: 69,012,352 (GRCm39)	T9S	unknown	Het
Homer3	T	C	8: 70,743,662 (GRCm39)	V180A	probably benign	Het
Irx1	T	A	13: 72,108,176 (GRCm39)	M169L	probably benign	Het
Kap	A	G	6: 133,828,690 (GRCm39)		probably null	Het
Mgat5b	A	G	11: 116,857,627 (GRCm39)	M2V		Het
Or10w3	T	A	19: 13,704,207 (GRCm39)	I194N	possibly damaging	Het
Or8b47	A	T	9: 38,435,013 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,096,056 (GRCm39)	D191G	probably benign	Het
Pate14	C	T	9: 36,549,159 (GRCm39)	G34R	possibly damaging	Het
Pcdha9	A	T	18: 37,132,689 (GRCm39)	Q586L	probably benign	Het
Pgk2	T	A	17: 40,518,409 (GRCm39)	I340F	probably benign	Het
Prex1	G	A	2: 166,419,810 (GRCm39)	Q1289*	probably null	Het
Prr22	A	G	17: 57,078,819 (GRCm39)	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,501,217 (GRCm39)	S201T	probably benign	Het
Rdh1	T	A	10: 127,596,121 (GRCm39)		probably null	Het
Rhbdl1	G	T	17: 26,055,123 (GRCm39)	N82K	probably benign	Het
Rspo1	C	A	4: 124,885,210 (GRCm39)	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,814,948 (GRCm39)	Y472*	probably null	Het
Senp5	T	A	16: 31,809,252 (GRCm39)	M1L	unknown	Het
Slfn4	A	T	11: 83,078,389 (GRCm39)		probably null	Het
Stab1	A	G	14: 30,863,413 (GRCm39)	V2091A	possibly damaging	Het
Stk32c	A	G	7: 138,768,069 (GRCm39)	S71P	possibly damaging	Het
Tpr	A	G	1: 150,320,180 (GRCm39)	T2243A	probably benign	Het
Tubgcp6	A	T	15: 88,985,604 (GRCm39)	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,700,066 (GRCm39)	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,510,158 (GRCm39)	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,606,570 (GRCm39)	C3F	probably damaging	Het
Zfp804b	T	C	5: 6,821,263 (GRCm39)	E600G	possibly damaging	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
R5747:Mob4	UTSW	1	55,187,737 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ACACGGTTAATGTGAACACCTTTG -3'
(R):5'- TATCTGGATGGCATTCACTCTG -3'

Sequencing Primer
(F):5'- TGTGAACACCTTTGTAACATAACTG -3'
(R):5'- ACACTGGAAAAATCTAAGCATA -3'

Posted On

2019-11-12