Incidental Mutation 'R8701:Fam107a'
ID 669086
Institutional Source Beutler Lab
Gene Symbol Fam107a
Ensembl Gene ENSMUSG00000021750
Gene Name family with sequence similarity 107, member A
Synonyms DRR1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 8296274-8318023 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8298755 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 124 (F124L)
Ref Sequence ENSEMBL: ENSMUSP00000045513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036070] [ENSMUST00000120411] [ENSMUST00000121887] [ENSMUST00000137133]
AlphaFold Q78TU8
Predicted Effect probably damaging
Transcript: ENSMUST00000036070
AA Change: F124L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045513
Gene: ENSMUSG00000021750
AA Change: F124L

DomainStartEndE-ValueType
Pfam:DUF1151 21 133 4e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120411
AA Change: F124L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112769
Gene: ENSMUSG00000021750
AA Change: F124L

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121887
AA Change: F124L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114015
Gene: ENSMUSG00000021750
AA Change: F124L

DomainStartEndE-ValueType
Pfam:DUF1151 16 133 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137133
SMART Domains Protein: ENSMUSP00000120854
Gene: ENSMUSG00000021750

DomainStartEndE-ValueType
Pfam:DUF1151 16 99 2.8e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,685,445 V218D probably benign Het
Abcc4 T C 14: 118,599,373 I659V probably benign Het
Adamtsl4 T A 3: 95,684,966 D24V possibly damaging Het
Agtr1b A T 3: 20,316,092 F117I probably damaging Het
Aldh3b2 A G 19: 3,978,448 E116G probably damaging Het
Alox5 T A 6: 116,413,826 I455F possibly damaging Het
Arnt C T 3: 95,493,765 S675F possibly damaging Het
C330027C09Rik T A 16: 49,007,141 Y456* probably null Het
Camkv A G 9: 107,948,041 T414A possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cnr1 A G 4: 33,944,739 I376V probably benign Het
Cyp2j12 T A 4: 96,121,573 K183M possibly damaging Het
Dact3 G T 7: 16,885,276 R232L probably damaging Het
Dlg5 G A 14: 24,176,700 T378M probably benign Het
Dnah10 T A 5: 124,726,847 D79E probably benign Het
Dsc1 A T 18: 20,107,682 Y195* probably null Het
Elovl1 A T 4: 118,430,510 M1L probably benign Het
Fam219a A G 4: 41,520,283 M155T probably damaging Het
Gm28308 C G 6: 52,163,450 probably benign Het
Gpr153 C T 4: 152,279,101 probably benign Het
Gtf2ird2 T A 5: 134,216,235 I445N probably damaging Het
Gzmb A T 14: 56,260,360 V141E probably benign Het
Hmcn1 A T 1: 150,755,257 M930K probably benign Het
Hunk T A 16: 90,386,610 F52Y probably damaging Het
Il18rap A G 1: 40,539,341 E304G probably benign Het
Klk14 A G 7: 43,694,142 S133G possibly damaging Het
Man2b1 T C 8: 85,095,153 S695P probably damaging Het
Mccc1 A T 3: 35,995,784 D86E probably benign Het
Mcu T A 10: 59,467,653 I121F probably damaging Het
Mlxipl T C 5: 135,107,191 F90S possibly damaging Het
Muc2 A G 7: 141,695,607 D536G probably damaging Het
Naa11 T C 5: 97,391,958 S114G possibly damaging Het
Ncaph T C 2: 127,106,138 K676E probably benign Het
Neurl2 C T 2: 164,833,134 D103N probably benign Het
Nup210l T C 3: 90,122,814 M278T probably benign Het
Olfr1192-ps1 A G 2: 88,652,487 I112V possibly damaging Het
Olfr550 A T 7: 102,578,692 M66L possibly damaging Het
Olfr897-ps1 A T 9: 38,309,438 L214F unknown Het
Olfr967 A T 9: 39,750,914 H176L probably damaging Het
Olfr981 A G 9: 40,022,519 N42S probably damaging Het
Pcdh20 A T 14: 88,468,413 Y484N possibly damaging Het
Pkhd1l1 A G 15: 44,574,683 Y3598C probably damaging Het
Plcg2 T A 8: 117,581,677 L336Q probably damaging Het
Ppp1r8 T C 4: 132,830,642 D207G possibly damaging Het
Prdm13 C T 4: 21,678,615 C625Y probably damaging Het
Ptcd3 T C 6: 71,885,511 D480G possibly damaging Het
Rbm39 T A 2: 156,161,587 K291M probably damaging Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Rnf220 T C 4: 117,489,993 H74R probably damaging Het
Sp6 A T 11: 97,022,264 T268S probably damaging Het
Sphk2 A T 7: 45,710,825 V585E probably damaging Het
Syne1 G A 10: 5,205,026 Q5638* probably null Het
Tas1r3 C T 4: 155,861,046 V573I probably benign Het
Tdrd1 T C 19: 56,851,484 S659P possibly damaging Het
Tead4 T A 6: 128,242,566 K237N probably damaging Het
Tex24 T A 8: 27,345,124 C227S probably benign Het
Tom1 A T 8: 75,052,168 T174S probably benign Het
Tpm3 C T 3: 90,087,680 R168C possibly damaging Het
Trpv3 A G 11: 73,278,936 E111G possibly damaging Het
Unc80 A G 1: 66,638,032 D2040G possibly damaging Het
Usp47 A G 7: 112,093,195 T955A probably damaging Het
Vmn2r11 G A 5: 109,047,690 A590V probably damaging Het
Wisp2 G T 2: 163,828,866 G98W probably damaging Het
Zfp112 A G 7: 24,125,740 R382G probably damaging Het
Zfp606 T A 7: 12,481,098 D84E unknown Het
Other mutations in Fam107a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Fam107a APN 14 8298766 missense probably benign 0.01
R0477:Fam107a UTSW 14 8301168 missense probably benign 0.45
R4998:Fam107a UTSW 14 8299514 missense possibly damaging 0.61
R5546:Fam107a UTSW 14 8298764 missense probably benign 0.01
R6360:Fam107a UTSW 14 8299619 missense probably damaging 0.99
R8027:Fam107a UTSW 14 8298813 unclassified probably benign
R8879:Fam107a UTSW 14 8301352 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CAGGAATAGCTGGCCTTTCAGG -3'
(R):5'- ATACTTGCCTGATACATACCCCAG -3'

Sequencing Primer
(F):5'- CTGGCCTTTCAGGTGTGCC -3'
(R):5'- TGATACATACCCCAGCTTTGG -3'
Posted On 2021-04-30