Incidental Mutation 'R1623:Fam178b'
ID 174742
Institutional Source Beutler Lab
Gene Symbol Fam178b
Ensembl Gene ENSMUSG00000046337
Gene Name family with sequence similarity 178, member B
Synonyms LOC381337, 1700024G10Rik
MMRRC Submission 039660-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1623 (G1)
Quality Score 212
Status Not validated
Chromosome 1
Chromosomal Location 36601773-36722264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36683405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 105 (I105T)
Ref Sequence ENSEMBL: ENSMUSP00000132846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114981] [ENSMUST00000170295]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114981
AA Change: I105T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124023
Gene: ENSMUSG00000046337
AA Change: I105T

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
Pfam:FAM178 89 371 3.4e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170295
AA Change: I105T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: I105T

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
Pfam:FAM178 86 385 1e-130 PFAM
low complexity region 395 410 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 94.9%
  • 20x: 87.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A T 2: 22,984,356 (GRCm39) D294V probably damaging Het
Actn2 A T 13: 12,355,320 (GRCm39) I21N probably benign Het
Adamts2 C A 11: 50,558,942 (GRCm39) P219H possibly damaging Het
Atg16l2 A G 7: 100,939,113 (GRCm39) F584L probably benign Het
Ccdc81 C T 7: 89,535,390 (GRCm39) R282Q probably benign Het
Ccn4 G T 15: 66,763,448 (GRCm39) V12L possibly damaging Het
Cd200r3 G A 16: 44,771,811 (GRCm39) C25Y possibly damaging Het
Cdkl4 C T 17: 80,863,731 (GRCm39) probably null Het
Chrne T C 11: 70,509,254 (GRCm39) E109G possibly damaging Het
Clmp A G 9: 40,693,856 (GRCm39) T358A probably benign Het
Cmtr1 G T 17: 29,906,021 (GRCm39) probably null Het
Col25a1 A G 3: 130,343,699 (GRCm39) E389G probably damaging Het
Ctc1 C T 11: 68,911,968 (GRCm39) T49M probably damaging Het
Cyth3 T A 5: 143,687,127 (GRCm39) M120K probably damaging Het
D430041D05Rik T A 2: 103,983,308 (GRCm39) E1996V probably damaging Het
Dnah9 T C 11: 65,928,463 (GRCm39) M2069V probably damaging Het
Dsg1c T C 18: 20,408,234 (GRCm39) Y428H probably damaging Het
Exosc8 T A 3: 54,641,752 (GRCm39) T7S probably damaging Het
F5 A G 1: 164,023,191 (GRCm39) Y1583C probably damaging Het
Fam181a T A 12: 103,282,591 (GRCm39) Y165* probably null Het
Fbn2 G T 18: 58,181,620 (GRCm39) N1880K possibly damaging Het
Gbgt1 A T 2: 28,394,988 (GRCm39) M209L probably benign Het
Gkn2 C A 6: 87,355,152 (GRCm39) Y120* probably null Het
Gm14295 T A 2: 176,499,157 (GRCm39) D1E probably damaging Het
Gpr141 A T 13: 19,936,082 (GRCm39) probably null Het
Gramd2b C A 18: 56,565,423 (GRCm39) P26Q probably benign Het
Greb1 A G 12: 16,724,771 (GRCm39) I1801T probably damaging Het
Gstm3 T A 3: 107,875,151 (GRCm39) I64F possibly damaging Het
Gtse1 A G 15: 85,751,779 (GRCm39) Y324C probably benign Het
Hal C G 10: 93,352,159 (GRCm39) T650R probably benign Het
Hdac7 G A 15: 97,706,285 (GRCm39) Q293* probably null Het
Hdlbp A T 1: 93,351,591 (GRCm39) N437K probably damaging Het
Hif1an A G 19: 44,557,862 (GRCm39) D248G probably damaging Het
Hivep3 T C 4: 119,952,901 (GRCm39) S406P possibly damaging Het
Hmcn2 A T 2: 31,348,051 (GRCm39) D4899V possibly damaging Het
Ikzf3 C T 11: 98,381,157 (GRCm39) probably null Het
Inka2 G A 3: 105,624,136 (GRCm39) G151D probably damaging Het
Itgb4 C A 11: 115,882,142 (GRCm39) Y819* probably null Het
Itpripl1 T C 2: 126,983,555 (GRCm39) D189G possibly damaging Het
Kmt2e A G 5: 23,687,500 (GRCm39) Y450C probably damaging Het
Mc4r A G 18: 66,993,068 (GRCm39) L15P probably benign Het
Mical1 T G 10: 41,357,389 (GRCm39) probably null Het
Mical3 C T 6: 121,001,768 (GRCm39) V575M probably damaging Het
Mki67 A T 7: 135,310,547 (GRCm39) probably null Het
Mocs2 G A 13: 114,961,158 (GRCm39) E52K probably benign Het
Myo7b T C 18: 32,133,104 (GRCm39) N415S probably damaging Het
Notch1 G A 2: 26,368,624 (GRCm39) T555I possibly damaging Het
Notch3 T C 17: 32,358,165 (GRCm39) D1686G probably benign Het
Oit3 A G 10: 59,264,061 (GRCm39) F358L probably damaging Het
Or10x1 A C 1: 174,196,515 (GRCm39) I11L probably benign Het
Or6k4 A T 1: 173,964,883 (GRCm39) D191V probably damaging Het
Orai1 T A 5: 123,167,265 (GRCm39) I146N probably damaging Het
Pck1 A G 2: 172,996,511 (GRCm39) I142V probably benign Het
Pdap1 C T 5: 145,069,739 (GRCm39) V89M possibly damaging Het
Phf11a T C 14: 59,525,000 (GRCm39) D68G possibly damaging Het
Pilrb2 T C 5: 137,869,510 (GRCm39) N30S probably damaging Het
Pkd1 G A 17: 24,797,243 (GRCm39) V2551I probably damaging Het
Pnpla7 T C 2: 24,942,611 (GRCm39) V132A probably damaging Het
Prr35 G A 17: 26,166,508 (GRCm39) P343L probably benign Het
Rad18 C T 6: 112,605,480 (GRCm39) S398N probably damaging Het
Rdh16f1 C A 10: 127,626,722 (GRCm39) N258K probably benign Het
Riox2 A G 16: 59,303,405 (GRCm39) H240R probably damaging Het
Ruvbl1 C T 6: 88,462,752 (GRCm39) A292V probably damaging Het
Ryr1 C T 7: 28,794,915 (GRCm39) G1151S probably damaging Het
Serpinb9b T C 13: 33,213,548 (GRCm39) I35T possibly damaging Het
Slc1a1 T A 19: 28,882,122 (GRCm39) M328K probably benign Het
Slc7a13 A T 4: 19,824,031 (GRCm39) T267S possibly damaging Het
Speer3 G T 5: 13,846,335 (GRCm39) M218I probably benign Het
Sptan1 A G 2: 29,876,432 (GRCm39) I271V probably damaging Het
Swap70 A G 7: 109,863,255 (GRCm39) T195A probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tonsl A G 15: 76,522,709 (GRCm39) C181R probably damaging Het
Trdn A G 10: 33,134,098 (GRCm39) K333R possibly damaging Het
Trpc4 T A 3: 54,206,600 (GRCm39) M600K probably damaging Het
Ubr3 C T 2: 69,808,067 (GRCm39) Q1183* probably null Het
Ubxn4 T A 1: 128,200,588 (GRCm39) L360I possibly damaging Het
Ugt2b1 T A 5: 87,074,267 (GRCm39) T31S probably benign Het
Uspl1 T C 5: 149,152,009 (GRCm39) S1056P probably damaging Het
Vmn2r60 A T 7: 41,785,279 (GRCm39) K164* probably null Het
Vwce T A 19: 10,624,108 (GRCm39) L333* probably null Het
Wdr95 T A 5: 149,497,581 (GRCm39) L253Q probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp142 T C 1: 74,610,934 (GRCm39) T851A possibly damaging Het
Other mutations in Fam178b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Fam178b APN 1 36,603,484 (GRCm39) missense possibly damaging 0.90
IGL01128:Fam178b APN 1 36,683,435 (GRCm39) missense probably damaging 1.00
IGL01859:Fam178b APN 1 36,698,446 (GRCm39) missense probably damaging 1.00
R0398:Fam178b UTSW 1 36,671,487 (GRCm39) splice site probably benign
R1116:Fam178b UTSW 1 36,617,669 (GRCm39) nonsense probably null
R1613:Fam178b UTSW 1 36,639,273 (GRCm39) missense probably benign 0.01
R2276:Fam178b UTSW 1 36,671,539 (GRCm39) missense probably damaging 1.00
R3706:Fam178b UTSW 1 36,647,529 (GRCm39) missense probably damaging 1.00
R4535:Fam178b UTSW 1 36,639,606 (GRCm39) missense probably benign 0.43
R4784:Fam178b UTSW 1 36,671,496 (GRCm39) splice site probably null
R5372:Fam178b UTSW 1 36,603,929 (GRCm39) missense possibly damaging 0.95
R5431:Fam178b UTSW 1 36,671,566 (GRCm39) missense probably damaging 1.00
R6808:Fam178b UTSW 1 36,639,216 (GRCm39) missense probably damaging 1.00
R7117:Fam178b UTSW 1 36,639,548 (GRCm39) missense probably benign 0.04
R7308:Fam178b UTSW 1 36,698,488 (GRCm39) missense probably benign
R7573:Fam178b UTSW 1 36,671,533 (GRCm39) missense probably damaging 1.00
R7678:Fam178b UTSW 1 36,603,532 (GRCm39) missense probably damaging 1.00
R9786:Fam178b UTSW 1 36,603,517 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGAACTGTTCCCCAGTGCTCCC -3'
(R):5'- ACCACCCTGGCCCTGGCTATAAAG -3'

Sequencing Primer
(F):5'- cctcccacatcaatcatcaatc -3'
(R):5'- GGCTATAAAGCCACTGTCCCTG -3'
Posted On 2014-04-24