Incidental Mutation 'R4430:Mif4gd'
ID 328575
Institutional Source Beutler Lab
Gene Symbol Mif4gd
Ensembl Gene ENSMUSG00000020743
Gene Name MIF4G domain containing
Synonyms 1110014L05Rik, 2310075G12Rik
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4430 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115498744-115503795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115499328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 185 (T185A)
Ref Sequence ENSEMBL: ENSMUSP00000102116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021087] [ENSMUST00000058109] [ENSMUST00000106506] [ENSMUST00000106507] [ENSMUST00000106508] [ENSMUST00000148574] [ENSMUST00000125097] [ENSMUST00000156173]
AlphaFold Q3UBZ5
Predicted Effect probably benign
Transcript: ENSMUST00000019135
SMART Domains Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 222 299 1.7e-20 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Alpha_adaptinC2 586 710 6.09e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021087
AA Change: T185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743
AA Change: T185A

DomainStartEndE-ValueType
Pfam:MIF4G 4 205 1.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058109
SMART Domains Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ribosomal_S7 68 234 7.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106506
AA Change: T166A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743
AA Change: T166A

DomainStartEndE-ValueType
Pfam:MIF4G 4 186 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106507
AA Change: T185A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743
AA Change: T185A

DomainStartEndE-ValueType
Pfam:MIF4G 4 204 3.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106508
SMART Domains Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 1.3e-32 PFAM
low complexity region 377 393 N/A INTRINSIC
low complexity region 405 420 N/A INTRINSIC
low complexity region 454 476 N/A INTRINSIC
Alpha_adaptinC2 508 632 6.09e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137304
Predicted Effect probably benign
Transcript: ENSMUST00000148574
SMART Domains Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

DomainStartEndE-ValueType
Pfam:MIF4G 4 162 1.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125097
SMART Domains Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
Pfam:VHS 3 106 3.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149814
Predicted Effect probably benign
Transcript: ENSMUST00000156173
SMART Domains Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 7.3e-32 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
Gm14412 C A 2: 177,007,625 (GRCm39) S90I probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G probably damaging Het
Other mutations in Mif4gd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0135:Mif4gd UTSW 11 115,499,291 (GRCm39) missense probably damaging 1.00
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
R6527:Mif4gd UTSW 11 115,500,101 (GRCm39) splice site probably null
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'- GCTGAAGCAAGGATTCTGGTG -3'
(R):5'- TTGGTGTCAGAATGGAGCGC -3'

Sequencing Primer
(F):5'- ATTCTGGTGCCAGCTTGAAAAG -3'
(R):5'- TCAGAATGGAGCGCGGTACTC -3'
Posted On 2015-07-21