Incidental Mutation 'R1394:Zfand1'
ID 162730
Institutional Source Beutler Lab
Gene Symbol Zfand1
Ensembl Gene ENSMUSG00000039795
Gene Name zinc finger, AN1-type domain 1
Synonyms 2310008M20Rik
MMRRC Submission 039456-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R1394 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 10405013-10416377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10411269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 62 (T62K)
Ref Sequence ENSEMBL: ENSMUSP00000122048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037839] [ENSMUST00000108377] [ENSMUST00000140634] [ENSMUST00000184644]
AlphaFold Q8BFR6
Predicted Effect probably benign
Transcript: ENSMUST00000037839
AA Change: T56K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037459
Gene: ENSMUSG00000039795
AA Change: T56K

DomainStartEndE-ValueType
ZnF_AN1 10 49 1.4e-8 SMART
ZnF_AN1 64 103 2.64e-4 SMART
low complexity region 121 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108377
AA Change: T56K

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104014
Gene: ENSMUSG00000039795
AA Change: T56K

DomainStartEndE-ValueType
ZnF_AN1 10 49 1.4e-8 SMART
ZnF_AN1 64 103 2.64e-4 SMART
low complexity region 121 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127313
Predicted Effect probably benign
Transcript: ENSMUST00000140634
AA Change: T62K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000122048
Gene: ENSMUSG00000039795
AA Change: T62K

DomainStartEndE-ValueType
ZnF_AN1 19 55 5.62e-3 SMART
ZnF_AN1 70 109 2.64e-4 SMART
low complexity region 127 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183798
Predicted Effect probably benign
Transcript: ENSMUST00000184644
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,249,362 (GRCm39) Y122H probably damaging Het
Ankrd27 T C 7: 35,315,294 (GRCm39) F481S possibly damaging Het
Casd1 T G 6: 4,624,117 (GRCm39) C303W probably damaging Het
Cep128 C T 12: 91,233,754 (GRCm39) R438Q probably benign Het
Cep192 A G 18: 67,991,992 (GRCm39) T1957A probably damaging Het
Cep290 T C 10: 100,373,391 (GRCm39) S1224P possibly damaging Het
Col5a2 A G 1: 45,442,579 (GRCm39) probably null Het
Cwc22 G A 2: 77,759,823 (GRCm39) R75C possibly damaging Het
Cyp4a30b A T 4: 115,328,089 (GRCm39) probably null Het
Dnah11 T C 12: 117,936,099 (GRCm39) D3298G possibly damaging Het
Drc3 T C 11: 60,284,545 (GRCm39) I450T possibly damaging Het
Dst T C 1: 34,204,236 (GRCm39) probably null Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fcgbp A G 7: 27,792,804 (GRCm39) H936R probably damaging Het
Fkbp15 T A 4: 62,246,109 (GRCm39) M440L probably benign Het
Fryl T C 5: 73,230,255 (GRCm39) H1634R probably damaging Het
Gm44511 G A 6: 128,797,293 (GRCm39) S32L possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Ift81 G T 5: 122,706,986 (GRCm39) D485E probably benign Het
Ipp T A 4: 116,395,109 (GRCm39) L548* probably null Het
Itm2a C T X: 106,441,807 (GRCm39) V200I possibly damaging Het
Kank1 A G 19: 25,405,528 (GRCm39) N1182S probably damaging Het
Mkks C T 2: 136,722,882 (GRCm39) G92S probably damaging Het
Mybbp1a C T 11: 72,334,474 (GRCm39) P243L probably damaging Het
Myo1f A G 17: 33,802,714 (GRCm39) D386G probably damaging Het
Obsl1 T C 1: 75,469,309 (GRCm39) S109G probably damaging Het
Or6z6 T A 7: 6,491,361 (GRCm39) T171S probably damaging Het
Or9s13 T A 1: 92,548,267 (GRCm39) I213N probably benign Het
Pcdh12 A G 18: 38,414,242 (GRCm39) probably null Het
Phlpp1 T C 1: 106,278,348 (GRCm39) V920A possibly damaging Het
Phlpp2 T A 8: 110,603,662 (GRCm39) C109* probably null Het
Prickle2 T A 6: 92,353,363 (GRCm39) H701L possibly damaging Het
Psen1 G A 12: 83,771,346 (GRCm39) G209R probably damaging Het
Psg19 T C 7: 18,530,983 (GRCm39) N57S probably damaging Het
Rdh12 A G 12: 79,255,839 (GRCm39) T9A probably benign Het
Rgma G T 7: 73,067,542 (GRCm39) A360S probably benign Het
Scyl2 T A 10: 89,476,827 (GRCm39) K766M possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31e5 T C 1: 28,815,890 (GRCm39) E714G possibly damaging Het
Spata46 A G 1: 170,139,573 (GRCm39) T191A probably benign Het
Spin1 T C 13: 51,298,517 (GRCm39) Y179H probably damaging Het
Tecpr1 T C 5: 144,143,357 (GRCm39) T673A possibly damaging Het
Tenm3 T A 8: 48,729,435 (GRCm39) M1508L probably benign Het
Vasn C T 16: 4,467,576 (GRCm39) R508* probably null Het
Vmn2r15 T A 5: 109,442,014 (GRCm39) I140L probably benign Het
Wdr44 T G X: 23,662,298 (GRCm39) C645G probably damaging Het
Zfy1 C T Y: 725,957 (GRCm39) V603I possibly damaging Het
Other mutations in Zfand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Zfand1 APN 3 10,413,590 (GRCm39) missense probably null 0.26
IGL00671:Zfand1 APN 3 10,411,084 (GRCm39) missense probably damaging 1.00
IGL01775:Zfand1 APN 3 10,409,926 (GRCm39) missense probably damaging 1.00
IGL03080:Zfand1 APN 3 10,405,797 (GRCm39) makesense probably null
R0678:Zfand1 UTSW 3 10,413,577 (GRCm39) missense probably benign 0.23
R1637:Zfand1 UTSW 3 10,411,042 (GRCm39) missense probably benign 0.10
R1699:Zfand1 UTSW 3 10,406,115 (GRCm39) missense possibly damaging 0.67
R4020:Zfand1 UTSW 3 10,405,816 (GRCm39) missense probably benign 0.06
R5700:Zfand1 UTSW 3 10,406,079 (GRCm39) missense probably damaging 1.00
R6798:Zfand1 UTSW 3 10,411,236 (GRCm39) missense probably benign 0.30
R6817:Zfand1 UTSW 3 10,405,884 (GRCm39) missense probably benign 0.34
R7520:Zfand1 UTSW 3 10,411,009 (GRCm39) missense probably damaging 0.98
R8304:Zfand1 UTSW 3 10,413,615 (GRCm39) nonsense probably null
R8855:Zfand1 UTSW 3 10,405,811 (GRCm39) missense probably benign 0.05
R8886:Zfand1 UTSW 3 10,409,862 (GRCm39) missense probably null 0.89
R8964:Zfand1 UTSW 3 10,413,631 (GRCm39) missense probably benign 0.00
R9099:Zfand1 UTSW 3 10,406,148 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTTTCTGTGTGGCAGCCATTC -3'
(R):5'- CCTCTGTGTACCGCTGATACAAACC -3'

Sequencing Primer
(F):5'- TCATGATCCGACTGATGACG -3'
(R):5'- gtccgcccttgtcatcc -3'
Posted On 2014-03-17