Incidental Mutation 'IGL03007:9330159F19Rik'
ID407597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9330159F19Rik
Ensembl Gene ENSMUSG00000004360
Gene NameRIKEN cDNA 9330159F19 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL03007
Quality Score
Status
Chromosome10
Chromosomal Location29211606-29230779 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29222038 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 144 (N144D)
Ref Sequence ENSEMBL: ENSMUSP00000149712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092627] [ENSMUST00000213489] [ENSMUST00000213490] [ENSMUST00000217011]
Predicted Effect probably benign
Transcript: ENSMUST00000092627
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: N144D

DomainStartEndE-ValueType
Pfam:DUF4482 15 152 3e-43 PFAM
low complexity region 270 286 N/A INTRINSIC
low complexity region 616 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213489
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213490
AA Change: N144D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000217011
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T A 5: 107,503,676 V145E probably benign Het
A830031A19Rik T C 11: 24,049,248 probably benign Het
Ankfy1 T C 11: 72,750,521 F640S probably damaging Het
Asb8 A G 15: 98,142,734 Y16H probably damaging Het
Astn1 T C 1: 158,668,623 probably benign Het
Celf3 A G 3: 94,487,137 T183A probably benign Het
Dctn1 T C 6: 83,182,708 V56A probably damaging Het
Erbb2 A C 11: 98,428,993 probably benign Het
Ighv6-4 A T 12: 114,406,593 Y80N possibly damaging Het
Igsf9b T C 9: 27,333,082 S782P probably damaging Het
Itsn1 A T 16: 91,784,162 probably benign Het
Kcnt2 T A 1: 140,354,507 Y77N possibly damaging Het
Lig3 T C 11: 82,789,575 F359S probably damaging Het
Mtmr6 G T 14: 60,289,535 probably benign Het
Muc4 C T 16: 32,752,048 S642F possibly damaging Het
Ncoa1 T A 12: 4,339,114 I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 T362K probably benign Het
Ntrk1 T C 3: 87,782,743 S449G possibly damaging Het
Odc1 T A 12: 17,548,810 H230Q probably benign Het
Olfr26 C T 9: 38,855,296 T78I probably damaging Het
Olfr348 T C 2: 36,786,800 S92P probably damaging Het
Olfr63 A G 17: 33,268,883 E53G probably damaging Het
Olfr963 T C 9: 39,669,471 V138A possibly damaging Het
Plekhh2 A C 17: 84,574,960 S665R possibly damaging Het
Qpct T A 17: 79,070,865 F155I probably damaging Het
Rcor2 C A 19: 7,274,353 T379K probably benign Het
Rint1 A G 5: 23,815,701 N574S probably benign Het
Rsbn1 C T 3: 103,928,879 A411V probably damaging Het
Sbno2 A T 10: 80,058,550 probably benign Het
Sptb A G 12: 76,621,341 S661P probably damaging Het
Syn3 A T 10: 86,064,914 M370K possibly damaging Het
Tex101 G A 7: 24,670,481 probably benign Het
Tmem255b C T 8: 13,457,066 T265I possibly damaging Het
Trio G T 15: 27,902,742 A211D probably damaging Het
Zfp638 C A 6: 83,984,884 Q1902K probably damaging Het
Other mutations in 9330159F19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:9330159F19Rik APN 10 29227328 missense probably benign 0.13
IGL01766:9330159F19Rik APN 10 29224561 missense probably benign 0.00
IGL01896:9330159F19Rik APN 10 29225158 missense possibly damaging 0.84
IGL01988:9330159F19Rik APN 10 29225111 missense probably benign 0.08
PIT1430001:9330159F19Rik UTSW 10 29224715 missense probably damaging 1.00
R0256:9330159F19Rik UTSW 10 29222256 missense probably damaging 1.00
R0490:9330159F19Rik UTSW 10 29227342 missense probably damaging 0.99
R1755:9330159F19Rik UTSW 10 29222294 missense possibly damaging 0.92
R1759:9330159F19Rik UTSW 10 29218276 missense possibly damaging 0.51
R1836:9330159F19Rik UTSW 10 29221799 missense probably damaging 0.98
R2373:9330159F19Rik UTSW 10 29225043 missense probably benign 0.00
R2511:9330159F19Rik UTSW 10 29221906 missense probably damaging 0.96
R3113:9330159F19Rik UTSW 10 29224376 nonsense probably null
R3755:9330159F19Rik UTSW 10 29222114 missense probably damaging 0.98
R3954:9330159F19Rik UTSW 10 29224809 missense possibly damaging 0.92
R3956:9330159F19Rik UTSW 10 29224809 missense possibly damaging 0.92
R3957:9330159F19Rik UTSW 10 29224809 missense possibly damaging 0.92
R4321:9330159F19Rik UTSW 10 29224891 missense probably damaging 1.00
R4510:9330159F19Rik UTSW 10 29224823 missense probably benign
R4511:9330159F19Rik UTSW 10 29224823 missense probably benign
R4717:9330159F19Rik UTSW 10 29221787 missense probably damaging 1.00
R5336:9330159F19Rik UTSW 10 29224499 missense probably damaging 0.98
R5401:9330159F19Rik UTSW 10 29225140 missense probably benign 0.03
R5585:9330159F19Rik UTSW 10 29225275 missense possibly damaging 0.95
R5635:9330159F19Rik UTSW 10 29218277 missense possibly damaging 0.93
R5647:9330159F19Rik UTSW 10 29225254 missense probably damaging 0.99
R6831:9330159F19Rik UTSW 10 29224679 missense probably benign 0.44
R7085:9330159F19Rik UTSW 10 29224480 missense probably damaging 0.96
R7779:9330159F19Rik UTSW 10 29225320 missense probably damaging 1.00
R7813:9330159F19Rik UTSW 10 29224900 missense probably benign 0.41
R8209:9330159F19Rik UTSW 10 29218199 missense probably damaging 0.99
R8224:9330159F19Rik UTSW 10 29218253 missense probably damaging 1.00
R8226:9330159F19Rik UTSW 10 29218199 missense probably damaging 0.99
R8492:9330159F19Rik UTSW 10 29218247 missense possibly damaging 0.95
Posted On2016-08-02