Incidental Mutation 'R3791:Llph'
ID 272546
Institutional Source Beutler Lab
Gene Symbol Llph
Ensembl Gene ENSMUSG00000020224
Gene Name LLP homolog, long-term synaptic facilitation (Aplysia)
Synonyms 1190005P17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.395) question?
Stock # R3791 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 120062967-120067976 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120064060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 59 (K59E)
Ref Sequence ENSEMBL: ENSMUSP00000118254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020444] [ENSMUST00000020446] [ENSMUST00000130198] [ENSMUST00000141206] [ENSMUST00000220107]
AlphaFold Q9D945
Predicted Effect probably benign
Transcript: ENSMUST00000020444
AA Change: K59E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020444
Gene: ENSMUSG00000020224
AA Change: K59E

DomainStartEndE-ValueType
Pfam:Laps 3 125 8.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020446
SMART Domains Protein: ENSMUSP00000020446
Gene: ENSMUSG00000020225

DomainStartEndE-ValueType
Pfam:Bax1-I 32 232 7.2e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123802
Predicted Effect probably benign
Transcript: ENSMUST00000130198
AA Change: K59E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118254
Gene: ENSMUSG00000020224
AA Change: K59E

DomainStartEndE-ValueType
Pfam:Laps 3 123 2.2e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134203
Predicted Effect probably benign
Transcript: ENSMUST00000141206
SMART Domains Protein: ENSMUSP00000121824
Gene: ENSMUSG00000020225

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
transmembrane domain 75 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148678
Predicted Effect probably benign
Transcript: ENSMUST00000220107
AA Change: K59E

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik AGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGG 6: 132,603,479 (GRCm39) probably benign Het
A930009A15Rik A T 10: 115,414,194 (GRCm39) probably benign Het
Adgrv1 T C 13: 81,741,221 (GRCm39) Y81C probably damaging Het
Alx3 A T 3: 107,508,022 (GRCm39) Y177F probably damaging Het
C6 A G 15: 4,764,717 (GRCm39) T138A probably benign Het
Cacna2d3 T C 14: 28,905,538 (GRCm39) M410V probably benign Het
Ccn4 A G 15: 66,791,137 (GRCm39) Y313C probably damaging Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Cnrip1 C T 11: 17,004,845 (GRCm39) probably benign Het
Col6a5 A C 9: 105,741,868 (GRCm39) D2350E probably damaging Het
Cyp4a12b A G 4: 115,292,167 (GRCm39) I407V probably benign Het
Gpx4 A G 10: 79,892,023 (GRCm39) I245V probably benign Het
H2-K2 A G 17: 34,218,499 (GRCm39) I139T probably benign Het
Hmgcl A G 4: 135,687,298 (GRCm39) K191R probably benign Het
Hpdl A G 4: 116,677,729 (GRCm39) V244A possibly damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Ifi203 T C 1: 173,762,646 (GRCm39) K162R possibly damaging Het
Kit A G 5: 75,799,810 (GRCm39) N514S probably damaging Het
Kmt2d G A 15: 98,742,030 (GRCm39) probably benign Het
Limd1 T A 9: 123,309,439 (GRCm39) S379R possibly damaging Het
Lrrc7 T A 3: 157,869,593 (GRCm39) M709L probably benign Het
Muc5ac A G 7: 141,352,238 (GRCm39) S665G probably benign Het
Ncapd3 C T 9: 26,963,931 (GRCm39) H524Y probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Or51s1 T C 7: 102,558,239 (GRCm39) D269G probably benign Het
Phtf2 T C 5: 20,987,296 (GRCm39) E400G probably damaging Het
Pkd1l3 T C 8: 110,362,949 (GRCm39) V1080A probably damaging Het
Plch1 A T 3: 63,606,944 (GRCm39) H1007Q probably benign Het
Prr5 T C 15: 84,565,417 (GRCm39) S3P probably damaging Het
Qtrt1 G A 9: 21,330,636 (GRCm39) D279N probably damaging Het
Rundc1 G A 11: 101,325,027 (GRCm39) A578T probably damaging Het
Shc4 A T 2: 125,565,251 (GRCm39) V16E probably damaging Het
Sik3 A T 9: 46,106,120 (GRCm39) L329F possibly damaging Het
Slc36a3 A G 11: 55,015,982 (GRCm39) S391P possibly damaging Het
Smad1 C A 8: 80,066,399 (GRCm39) R426L probably damaging Het
Tent4b G A 8: 88,969,957 (GRCm39) E210K probably damaging Het
Thrap3 A T 4: 126,061,293 (GRCm39) N820K possibly damaging Het
Tnrc6b T C 15: 80,807,841 (GRCm39) S1598P probably damaging Het
Ttn T C 2: 76,545,168 (GRCm39) I32645V probably damaging Het
Zfp266 A C 9: 20,410,777 (GRCm39) Y467D probably damaging Het
Zfp526 T A 7: 24,925,628 (GRCm39) M629K probably damaging Het
Zfp788 A T 7: 41,299,152 (GRCm39) H596L probably damaging Het
Zhx3 A G 2: 160,622,368 (GRCm39) W600R possibly damaging Het
Other mutations in Llph
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0894:Llph UTSW 10 120,064,086 (GRCm39) nonsense probably null
R1871:Llph UTSW 10 120,067,141 (GRCm39) missense probably damaging 1.00
R6860:Llph UTSW 10 120,067,189 (GRCm39) missense probably damaging 1.00
R7054:Llph UTSW 10 120,067,240 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- TGTTTCTGTTCACCGCCAGG -3'
(R):5'- AGCTAGCCATTTGTCCCCAG -3'

Sequencing Primer
(F):5'- CCGCCAGGTGAAGCATG -3'
(R):5'- TTCTTTTGGACTTGACACTAGGGAC -3'
Posted On 2015-03-25