Incidental Mutation 'R7298:Gm14548'
ID566795
Institutional Source Beutler Lab
Gene Symbol Gm14548
Ensembl Gene ENSMUSG00000074417
Gene Namepredicted gene 14548
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R7298 (G1)
Quality Score150.008
Status Not validated
Chromosome7
Chromosomal Location3884242-3898120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3895265 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 353 (I353F)
Ref Sequence ENSEMBL: ENSMUSP00000070073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070639]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070639
AA Change: I353F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: I353F

DomainStartEndE-ValueType
IG 34 118 6.41e-2 SMART
IG 129 315 8.59e-3 SMART
IG_like 237 302 1.91e-1 SMART
IG 328 415 3.36e0 SMART
IG_like 435 502 3.11e0 SMART
IG 529 618 8.59e-3 SMART
low complexity region 627 636 N/A INTRINSIC
low complexity region 654 663 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,207,883 T51S probably benign Het
Abcc1 A G 16: 14,396,472 D204G possibly damaging Het
Acaa1b C T 9: 119,151,847 E172K probably benign Het
Adamts5 G A 16: 85,899,918 T117I probably benign Het
Agmat A G 4: 141,746,964 E52G possibly damaging Het
Alg9 C T 9: 50,779,061 A121V probably damaging Het
Atf7ip2 T C 16: 10,209,168 I100T possibly damaging Het
Calm2 T C 17: 87,442,737 probably null Het
Cfap44 A T 16: 44,481,412 M1838L probably benign Het
Cym A G 3: 107,219,693 Y49H probably benign Het
Dchs1 G A 7: 105,755,131 R2735* probably null Het
Dnajc6 T C 4: 101,606,611 I187T probably benign Het
Fam151a G T 4: 106,735,528 R69L possibly damaging Het
Gm13089 C A 4: 143,698,505 D123Y probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 101,794,171 probably benign Het
Gm9922 C A 14: 101,729,525 G97V unknown Het
Hacl1 A T 14: 31,616,486 M378K probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ighv1-82 A T 12: 115,952,954 I6N possibly damaging Het
Kctd19 A C 8: 105,382,984 V942G probably benign Het
Lce1l C T 3: 92,850,176 C125Y unknown Het
Mmp8 T C 9: 7,560,448 F42S probably damaging Het
Myom2 T C 8: 15,098,411 L529P probably damaging Het
Nectin3 A T 16: 46,448,396 Y548N probably damaging Het
Olfml3 T C 3: 103,735,860 K402E probably damaging Het
Olfr1255 T C 2: 89,816,521 F59S probably damaging Het
Olfr303 T A 7: 86,394,923 T192S probably damaging Het
Otof T A 5: 30,388,270 I514F probably damaging Het
Plch1 G T 3: 63,716,037 S603* probably null Het
Ppa1 T A 10: 61,666,912 D171E probably benign Het
Prss34 T C 17: 25,299,763 C240R probably damaging Het
Ptpre A G 7: 135,683,287 D714G probably damaging Het
Ranbp9 A G 13: 43,480,460 F157L probably benign Het
Rbbp6 A G 7: 123,001,194 K1475E unknown Het
Retnlg A G 16: 48,872,874 N5D probably benign Het
Rev1 T C 1: 38,053,104 T1245A probably damaging Het
Rngtt G T 4: 33,362,927 L360F probably damaging Het
Scrib A C 15: 76,064,761 V447G probably damaging Het
Slc22a6 C A 19: 8,621,320 A247E possibly damaging Het
Slc25a20 G A 9: 108,662,144 probably benign Het
Spag16 T A 1: 69,919,426 probably null Het
Stx3 C T 19: 11,790,048 W87* probably null Het
Syngap1 T A 17: 26,962,987 M1158K possibly damaging Het
Tmed9 C A 13: 55,593,294 H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,649,785 S54N probably benign Het
Tyk2 C T 9: 21,108,860 V1001I probably benign Het
Ugt8a A G 3: 125,915,416 V15A probably benign Het
Uhrf2 A G 19: 30,088,549 E661G probably benign Het
Vmn2r77 T A 7: 86,800,771 I75N probably benign Het
Zfp346 T G 13: 55,130,603 V258G probably damaging Het
Zfp72 T A 13: 74,372,394 K188N possibly damaging Het
Zgrf1 C A 3: 127,583,650 S848* probably null Het
Other mutations in Gm14548
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00541:Gm14548 APN 7 3897386 splice site probably benign
IGL01358:Gm14548 APN 7 3895687 missense probably benign 0.41
IGL01868:Gm14548 APN 7 3897175 nonsense probably null
IGL02421:Gm14548 APN 7 3896995 missense possibly damaging 0.87
IGL02544:Gm14548 APN 7 3897186 missense probably damaging 0.96
IGL02960:Gm14548 APN 7 3897079 missense possibly damaging 0.88
IGL02973:Gm14548 APN 7 3897240 missense probably damaging 1.00
PIT4495001:Gm14548 UTSW 7 3897458 missense probably damaging 1.00
R0761:Gm14548 UTSW 7 3893979 critical splice donor site probably null
R1917:Gm14548 UTSW 7 3897638 missense probably damaging 1.00
R1920:Gm14548 UTSW 7 3897872 missense probably damaging 0.98
R2219:Gm14548 UTSW 7 3897489 missense probably benign 0.10
R2220:Gm14548 UTSW 7 3897489 missense probably benign 0.10
R4991:Gm14548 UTSW 7 3895572 missense probably benign 0.37
R5271:Gm14548 UTSW 7 3897567 nonsense probably null
R5909:Gm14548 UTSW 7 3897622 missense probably damaging 1.00
R6008:Gm14548 UTSW 7 3894600 missense probably damaging 1.00
R6193:Gm14548 UTSW 7 3898050 critical splice donor site probably null
R6218:Gm14548 UTSW 7 3894032 missense possibly damaging 0.65
R6219:Gm14548 UTSW 7 3894641 missense probably damaging 1.00
R6650:Gm14548 UTSW 7 3895633 missense probably benign 0.15
R6879:Gm14548 UTSW 7 3896962 missense probably benign 0.40
R6987:Gm14548 UTSW 7 3897661 missense probably damaging 0.99
R7082:Gm14548 UTSW 7 3895511 missense probably damaging 1.00
R7087:Gm14548 UTSW 7 3897219 missense probably benign 0.08
R7144:Gm14548 UTSW 7 3897616 missense probably damaging 1.00
R7359:Gm14548 UTSW 7 3898104 start gained probably benign
R7751:Gm14548 UTSW 7 3895604 missense probably damaging 1.00
R7810:Gm14548 UTSW 7 3894205 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGTGGGGACTTACCTGAGATG -3'
(R):5'- AGTCTTCCCTTCCCACAAAG -3'

Sequencing Primer
(F):5'- TTGTTGAAGAGCACTAGGTACTGAC -3'
(R):5'- TTCCCTTCCCACAAAGTATTGCAAG -3'
Posted On2019-06-26