Mutagenetix > Incidental Mutation

Incidental Mutation 'R6527:Mif4gd'

522011

Institutional Source

Beutler Lab

Gene Symbol

Mif4gd

Ensembl Gene

ENSMUSG00000020743

Gene Name

MIF4G domain containing

Synonyms

1110014L05Rik, 2310075G12Rik

MMRRC Submission

044653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115498744-115503795 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 115500101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021087] [ENSMUST00000021089] [ENSMUST00000058109] [ENSMUST00000106506] [ENSMUST00000106507] [ENSMUST00000148574] [ENSMUST00000178003]

AlphaFold

Q3UBZ5

Predicted Effect

probably null
Transcript: ENSMUST00000021087

SMART Domains

Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	205	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000021089

SMART Domains

Protein: ENSMUSP00000021089
Gene: ENSMUSG00000020744

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	12	111	5.7e-20	PFAM
Pfam:Mito_carr	114	205	5.3e-24	PFAM
Pfam:Mito_carr	212	313	5.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058109

SMART Domains

Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_S7	68	234	7.1e-40	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106506

SMART Domains

Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	186	1.1e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106507

SMART Domains

Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	204	3.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127132

Predicted Effect

probably null
Transcript: ENSMUST00000148574

SMART Domains

Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	162	1.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139556

Predicted Effect

probably benign
Transcript: ENSMUST00000178003

SMART Domains

Protein: ENSMUSP00000137534
Gene: ENSMUSG00000020744

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	11	111	1.1e-21	PFAM
Pfam:Mito_carr	114	205	7e-25	PFAM
Pfam:Mito_carr	212	313	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141556

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,288 (GRCm39)	T826A	probably damaging	Het
Abca16	T	A	7: 120,076,995 (GRCm39)	I686N	possibly damaging	Het
Abcb6	T	C	1: 75,154,132 (GRCm39)		probably null	Het
Adgrl3	A	C	5: 81,935,364 (GRCm39)	E1299A	probably damaging	Het
Amd2	A	C	10: 35,586,802 (GRCm39)	Y252D	probably damaging	Het
Cfap74	A	G	4: 155,506,722 (GRCm39)		probably null	Het
Dhx29	G	T	13: 113,069,076 (GRCm39)	K135N	probably damaging	Het
Dlg5	T	A	14: 24,240,516 (GRCm39)	D245V	possibly damaging	Het
Dscaml1	C	T	9: 45,623,482 (GRCm39)	Q83*	probably null	Het
Dsp	T	A	13: 38,379,849 (GRCm39)	L1599Q	probably damaging	Het
Duox2	A	G	2: 122,125,095 (GRCm39)	V369A	probably benign	Het
Flacc1	T	C	1: 58,731,572 (GRCm39)	M1V	probably null	Het
Gbe1	T	A	16: 70,230,560 (GRCm39)		probably null	Het
Gm7298	A	G	6: 121,746,669 (GRCm39)	K600R	probably benign	Het
Heatr4	C	T	12: 84,026,537 (GRCm39)	G240E	probably damaging	Het
Jakmip2	A	G	18: 43,689,589 (GRCm39)	V651A	possibly damaging	Het
Jam3	C	T	9: 27,066,640 (GRCm39)	R8Q	unknown	Het
Letm2	A	G	8: 26,082,522 (GRCm39)		probably benign	Het
Lmod3	T	C	6: 97,224,339 (GRCm39)	D494G	probably benign	Het
Mast2	T	C	4: 116,172,136 (GRCm39)	D604G	probably damaging	Het
Msr1	T	C	8: 40,077,274 (GRCm39)	E112G	possibly damaging	Het
Mtus2	A	G	5: 148,214,408 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,753,433 (GRCm38)	H1103R	probably benign	Het
Nudt14	T	A	12: 112,898,507 (GRCm39)	I198F	possibly damaging	Het
Or11j4	T	A	14: 50,630,885 (GRCm39)	L224*	probably null	Het
Or13p3	T	A	4: 118,567,045 (GRCm39)	F147Y	possibly damaging	Het
Or1n1b	T	C	2: 36,780,594 (GRCm39)	T89A	probably benign	Het
Osbpl8	T	C	10: 111,129,066 (GRCm39)	I884T	probably benign	Het
Podxl2	T	C	6: 88,819,912 (GRCm39)	N550S	probably damaging	Het
Ppp1r9a	A	G	6: 5,045,949 (GRCm39)	Y151C	probably damaging	Het
Prss42	T	C	9: 110,629,924 (GRCm39)	V226A	possibly damaging	Het
Psmd12	A	G	11: 107,379,794 (GRCm39)	I116V	probably damaging	Het
Psme4	A	C	11: 30,782,175 (GRCm39)	I872L	probably benign	Het
Rab11fip1	A	T	8: 27,664,420 (GRCm39)	V65E	probably damaging	Het
Ros1	T	C	10: 52,019,473 (GRCm39)	N700S	possibly damaging	Het
Slc15a4	G	A	5: 127,673,773 (GRCm39)	T547M	probably damaging	Het
Slfn3	T	A	11: 83,103,932 (GRCm39)	C268S	probably benign	Het
Smc5	T	C	19: 23,205,554 (GRCm39)	Q794R	probably benign	Het
Sqor	A	G	2: 122,651,206 (GRCm39)	Y434C	probably damaging	Het
Steap4	T	A	5: 8,028,502 (GRCm39)	L360H	probably damaging	Het
Sycp1	A	G	3: 102,806,203 (GRCm39)	V496A	probably benign	Het
Tmem161b	T	G	13: 84,420,383 (GRCm39)	M128R	probably benign	Het
Tmem59l	T	C	8: 70,938,775 (GRCm39)	E102G	probably damaging	Het
Tnks	A	T	8: 35,340,247 (GRCm39)	V457D	probably benign	Het
Tomt	A	G	7: 101,549,599 (GRCm39)	Y230H	probably damaging	Het
Trim37	A	G	11: 87,080,910 (GRCm39)	N561D	probably damaging	Het
V1ra8	T	A	6: 90,180,295 (GRCm39)	I166K	probably damaging	Het
Vmn1r56	A	G	7: 5,199,575 (GRCm39)	V14A	probably benign	Het
Vsig8	T	C	1: 172,387,925 (GRCm39)	V5A	possibly damaging	Het
Vwa8	A	T	14: 79,184,653 (GRCm39)	S384C	possibly damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp984	T	C	4: 147,840,381 (GRCm39)	N157D	probably benign	Het
Zzef1	G	A	11: 72,765,816 (GRCm39)	D1448N	probably benign	Het

Other mutations in Mif4gd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0135:Mif4gd	UTSW	11	115,499,291 (GRCm39)	missense	probably damaging	1.00
R4430:Mif4gd	UTSW	11	115,499,328 (GRCm39)	missense	probably benign
R4588:Mif4gd	UTSW	11	115,500,372 (GRCm39)	missense	probably damaging	1.00
R4656:Mif4gd	UTSW	11	115,499,163 (GRCm39)	unclassified	probably benign
R4947:Mif4gd	UTSW	11	115,500,463 (GRCm39)	missense	probably benign	0.01
R5890:Mif4gd	UTSW	11	115,500,188 (GRCm39)	missense	probably benign	0.03
R5935:Mif4gd	UTSW	11	115,500,439 (GRCm39)	missense	probably benign	0.18
R7106:Mif4gd	UTSW	11	115,502,737 (GRCm39)	missense	probably damaging	1.00
R7515:Mif4gd	UTSW	11	115,499,222 (GRCm39)	missense	possibly damaging	0.50
R8463:Mif4gd	UTSW	11	115,499,324 (GRCm39)	missense	probably benign	0.02
X0067:Mif4gd	UTSW	11	115,500,410 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTCATAGACAGGGTTAACC -3'
(R):5'- ACGCCATCATTCAGGTTGTG -3'

Sequencing Primer
(F):5'- GGTTAACCAGGGCCATCATG -3'
(R):5'- TGAGGATGCCACCTTAGGGTC -3'

Posted On

2018-06-06