Incidental Mutation 'R9798:Igsf5'
ID 735070
Institutional Source Beutler Lab
Gene Symbol Igsf5
Ensembl Gene ENSMUSG00000000159
Gene Name immunoglobulin superfamily, member 5
Synonyms Igsf5, Jam4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R9798 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 96361668-96525580 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96372875 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 35 (T35K)
Ref Sequence ENSEMBL: ENSMUSP00000109425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000163] [ENSMUST00000081093] [ENSMUST00000113794] [ENSMUST00000113795]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000163
AA Change: T35K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: T35K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 127 9.63e-6 SMART
IG 134 221 2.64e0 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000081093
AA Change: T35K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: T35K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113794
AA Change: T35K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: T35K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 127 9.63e-6 SMART
IG 134 221 2.64e0 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000113795
AA Change: T35K
SMART Domains Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: T35K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 60,853,120 S201T possibly damaging Het
Adamtsl1 A G 4: 86,156,690 D98G probably damaging Het
Ahnak A G 19: 9,013,619 D4089G probably damaging Het
Alpk3 T A 7: 81,092,652 M739K probably benign Het
Asns T C 6: 7,689,395 N36D possibly damaging Het
Bbs7 A T 3: 36,598,290 M338K probably benign Het
Bbx T C 16: 50,224,758 D480G probably damaging Het
BC037034 A G 5: 138,261,678 M372T possibly damaging Het
Cc2d2b G A 19: 40,794,636 V626I unknown Het
Celsr3 A T 9: 108,828,595 D759V probably damaging Het
Entpd1 G A 19: 40,727,345 V319M possibly damaging Het
Espnl G T 1: 91,323,564 G127V probably damaging Het
Fgfr1 C T 8: 25,563,507 T266I unknown Het
Fktn C T 4: 53,747,128 H344Y probably damaging Het
Fryl T C 5: 73,035,059 M2678V probably benign Het
Fsip2 T A 2: 82,979,881 Y2181* probably null Het
Gm21698 A T 5: 25,984,186 D256E probably damaging Het
Hipk1 C T 3: 103,744,115 V1156I possibly damaging Het
Igsf10 T A 3: 59,331,705 I352F probably damaging Het
Il23a G C 10: 128,296,960 R143G probably benign Het
Kctd11 T G 11: 69,879,906 H102P probably damaging Het
Msln T C 17: 25,753,797 T37A probably benign Het
Olfr1037 T C 2: 86,085,262 N172D probably damaging Het
Olfr847 T A 9: 19,375,281 Y200F probably benign Het
Phtf1 T C 3: 103,997,553 S506P probably benign Het
Pias3 T C 3: 96,699,565 I57T probably damaging Het
Psmc2 A G 5: 21,795,808 I94V probably benign Het
Ripor1 T C 8: 105,616,166 Y224H possibly damaging Het
Rrh C T 3: 129,811,772 V229M probably damaging Het
Scaf4 G A 16: 90,248,645 R526C unknown Het
Slc1a6 G A 10: 78,793,333 probably null Het
Slc4a7 A G 14: 14,782,056 D937G probably damaging Het
Slco1b2 C A 6: 141,655,353 T134K probably damaging Het
Sptbn4 T C 7: 27,357,292 *2562W probably null Het
Ston1 T C 17: 88,637,044 V626A probably damaging Het
Synpo A T 18: 60,603,760 D371E possibly damaging Het
Tex15 T A 8: 33,572,693 V717D probably damaging Het
Tmod3 G T 9: 75,529,519 L45I possibly damaging Het
Tmod3 G C 9: 75,529,521 A44G probably damaging Het
Tmod3 A C 9: 75,529,523 N43K probably damaging Het
Top2b T C 14: 16,389,845 F228L probably damaging Het
Ush2a A G 1: 188,911,805 T4455A possibly damaging Het
Vmn1r178 C A 7: 23,894,308 Y260* probably null Het
Vps13c T A 9: 67,919,364 I1429N probably damaging Het
Wdr31 A G 4: 62,463,414 V60A probably benign Het
Other mutations in Igsf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Igsf5 APN 16 96391020 missense possibly damaging 0.72
IGL01335:Igsf5 APN 16 96373153 splice site probably benign
IGL02576:Igsf5 APN 16 96386581 missense probably benign 0.23
IGL02721:Igsf5 APN 16 96391022 missense probably damaging 0.98
IGL03289:Igsf5 APN 16 96525432 missense possibly damaging 0.94
R0630:Igsf5 UTSW 16 96372823 splice site probably benign
R1858:Igsf5 UTSW 16 96386629 splice site probably null
R1961:Igsf5 UTSW 16 96378351 missense probably damaging 1.00
R2508:Igsf5 UTSW 16 96364047 missense probably benign 0.01
R4491:Igsf5 UTSW 16 96364081 missense probably benign 0.02
R5123:Igsf5 UTSW 16 96373079 missense probably damaging 1.00
R5262:Igsf5 UTSW 16 96391037 nonsense probably null
R5384:Igsf5 UTSW 16 96391026 missense probably benign 0.21
R5558:Igsf5 UTSW 16 96386531 missense possibly damaging 0.95
R5950:Igsf5 UTSW 16 96372872 missense probably benign 0.07
R5957:Igsf5 UTSW 16 96364049 missense probably benign 0.10
R6199:Igsf5 UTSW 16 96421739 missense possibly damaging 0.66
R6298:Igsf5 UTSW 16 96396448 missense possibly damaging 0.93
R7164:Igsf5 UTSW 16 96372848 missense possibly damaging 0.85
R7197:Igsf5 UTSW 16 96403346 missense probably damaging 1.00
R8213:Igsf5 UTSW 16 96372988 missense probably damaging 1.00
R8353:Igsf5 UTSW 16 96421796 missense probably benign 0.00
R8453:Igsf5 UTSW 16 96421796 missense probably benign 0.00
R8823:Igsf5 UTSW 16 96421739 missense possibly damaging 0.66
Z1176:Igsf5 UTSW 16 96391023 missense probably damaging 1.00
Z1177:Igsf5 UTSW 16 96378333 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGGCCATGTGTCTACCAGAAG -3'
(R):5'- TCCGAGATGAAGCTGTCAGTG -3'

Sequencing Primer
(F):5'- GCCATGTGTCTACCAGAAGTCCTG -3'
(R):5'- AAGCTGTCAGTGCTGTTGTAAC -3'
Posted On 2022-11-14