Incidental Mutation 'R5846:Foxd1'
ID 453647
Institutional Source Beutler Lab
Gene Symbol Foxd1
Ensembl Gene ENSMUSG00000078302
Gene Name forkhead box D1
Synonyms Hfh10, BF-2, FREAC4, Hfhbf2
MMRRC Submission 044064-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5846 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 98490753-98493213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98491549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 141 (M141T)
Ref Sequence ENSEMBL: ENSMUSP00000100725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105098]
AlphaFold Q61345
Predicted Effect probably damaging
Transcript: ENSMUST00000105098
AA Change: M141T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100725
Gene: ENSMUSG00000078302
AA Change: M141T

DomainStartEndE-ValueType
low complexity region 23 46 N/A INTRINSIC
low complexity region 63 79 N/A INTRINSIC
low complexity region 83 124 N/A INTRINSIC
FH 128 218 7.63e-61 SMART
low complexity region 231 280 N/A INTRINSIC
low complexity region 282 323 N/A INTRINSIC
low complexity region 336 361 N/A INTRINSIC
low complexity region 378 434 N/A INTRINSIC
Meta Mutation Damage Score 0.1131 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for this targeted mutation die within 24 hours after birth with severe defects in nephrogenesis, and abnormal development of the renal collecting system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,377 (GRCm39) S335P unknown Het
Ace3 A T 11: 105,889,188 (GRCm39) I473F probably benign Het
Adcy2 T A 13: 68,886,707 (GRCm39) N281Y probably damaging Het
Adgra1 T A 7: 139,455,196 (GRCm39) W275R probably damaging Het
Apmap T C 2: 150,450,341 (GRCm39) D20G probably damaging Het
Arap2 T C 5: 62,807,116 (GRCm39) T1184A probably damaging Het
Atp13a2 T C 4: 140,722,907 (GRCm39) V303A possibly damaging Het
BC004004 A T 17: 29,501,282 (GRCm39) probably benign Het
C1s1 G A 6: 124,517,912 (GRCm39) P23S possibly damaging Het
C1s2 T A 6: 124,608,123 (GRCm39) N197Y probably damaging Het
Camsap3 A G 8: 3,653,980 (GRCm39) H539R probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Cct4 T C 11: 22,951,354 (GRCm39) probably benign Het
Chrm2 A T 6: 36,500,385 (GRCm39) T81S probably damaging Het
Dnaaf3 A T 7: 4,526,686 (GRCm39) S464T possibly damaging Het
Dnah10 T A 5: 124,900,437 (GRCm39) I3898N possibly damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dnajc13 T C 9: 104,067,584 (GRCm39) K1187E probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Dst C T 1: 34,234,942 (GRCm39) Q3674* probably null Het
Eef1a2 T C 2: 180,794,776 (GRCm39) Y141C probably damaging Het
Fads3 G T 19: 10,030,397 (GRCm39) Q178H probably null Het
Fbxw22 T A 9: 109,215,829 (GRCm39) M140L probably benign Het
Fndc7 A G 3: 108,788,707 (GRCm39) I178T probably damaging Het
H4c2 T C 13: 23,941,215 (GRCm39) V71A possibly damaging Het
Havcr2 T C 11: 46,360,343 (GRCm39) I141T probably benign Het
Hectd1 A C 12: 51,820,618 (GRCm39) N1190K probably damaging Het
Hook3 T A 8: 26,534,355 (GRCm39) probably benign Het
Hpgd T A 8: 56,760,702 (GRCm39) I133N possibly damaging Het
Itih2 T C 2: 10,102,714 (GRCm39) R807G probably benign Het
Klhl35 G A 7: 99,122,094 (GRCm39) G65D probably damaging Het
Lrch4 C G 5: 137,631,919 (GRCm39) C48W probably damaging Het
Mafa A G 15: 75,619,627 (GRCm39) S49P probably benign Het
Magi1 A G 6: 93,662,584 (GRCm39) V1170A probably damaging Het
Mprip A T 11: 59,649,380 (GRCm39) K1028M probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Numb G T 12: 83,923,521 (GRCm39) probably benign Het
Obscn A G 11: 58,929,435 (GRCm39) L6063P probably damaging Het
Or2y6 A G 11: 52,103,881 (GRCm39) *312Q probably null Het
Or6c6c A T 10: 129,540,756 (GRCm39) N3I probably damaging Het
P3h3 A T 6: 124,834,157 (GRCm39) probably null Het
Pi4k2a A G 19: 42,103,477 (GRCm39) D329G probably benign Het
Ptch1 T C 13: 63,713,268 (GRCm39) probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Sdk1 T C 5: 142,100,148 (GRCm39) Y1393H probably damaging Het
Slc18a3 T A 14: 32,185,880 (GRCm39) M168L probably benign Het
Smurf1 T C 5: 144,816,190 (GRCm39) T722A probably damaging Het
Ssr2 C T 3: 88,488,379 (GRCm39) P85L probably damaging Het
Syne2 G T 12: 76,074,898 (GRCm39) A4614S probably benign Het
Tgfbr3 C A 5: 107,288,521 (GRCm39) G380V possibly damaging Het
Tk1 G T 11: 117,706,748 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,241 (GRCm39) S610T probably benign Het
Tmtc2 A G 10: 105,107,302 (GRCm39) probably benign Het
Trim30b A G 7: 104,006,578 (GRCm39) Y93H possibly damaging Het
Tsks A G 7: 44,593,412 (GRCm39) D126G probably damaging Het
Ttn T A 2: 76,733,812 (GRCm39) probably benign Het
Usp15 A G 10: 123,017,647 (GRCm39) W50R probably damaging Het
Vmn2r55 A T 7: 12,404,492 (GRCm39) F304I probably benign Het
Xirp2 T A 2: 67,339,587 (GRCm39) D609E probably damaging Het
Zan C T 5: 137,392,638 (GRCm39) probably null Het
Other mutations in Foxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1674:Foxd1 UTSW 13 98,491,347 (GRCm39) missense unknown
R2328:Foxd1 UTSW 13 98,491,660 (GRCm39) missense probably damaging 1.00
R3747:Foxd1 UTSW 13 98,492,424 (GRCm39) missense unknown
R3750:Foxd1 UTSW 13 98,492,424 (GRCm39) missense unknown
R5524:Foxd1 UTSW 13 98,492,412 (GRCm39) missense unknown
R6880:Foxd1 UTSW 13 98,491,225 (GRCm39) missense unknown
R8898:Foxd1 UTSW 13 98,491,596 (GRCm39) missense probably damaging 1.00
R9103:Foxd1 UTSW 13 98,491,763 (GRCm39) missense possibly damaging 0.66
Z1176:Foxd1 UTSW 13 98,492,446 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TATGACCCTGAGCACGGAGATG -3'
(R):5'- CGAACATATCTGCGGACTCC -3'

Sequencing Primer
(F):5'- ACGATCTCGAGGACCTGGAG -3'
(R):5'- AGCGTCCAGTAGTTGCCCTTG -3'
Posted On 2017-02-10