Incidental Mutation 'R4430:Gm14412'
ID 328551
Institutional Source Beutler Lab
Gene Symbol Gm14412
Ensembl Gene ENSMUSG00000078868
Gene Name predicted gene 14412
Synonyms
MMRRC Submission 041700-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.634) question?
Stock # R4430 (G1)
Quality Score 100
Status Not validated
Chromosome 2
Chromosomal Location 177006313-177016100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 177007625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 90 (S90I)
Ref Sequence ENSEMBL: ENSMUSP00000104587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108959]
AlphaFold A2ARR7
Predicted Effect probably benign
Transcript: ENSMUST00000108959
AA Change: S90I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104587
Gene: ENSMUSG00000078868
AA Change: S90I

DomainStartEndE-ValueType
KRAB 4 66 1.54e-15 SMART
ZnF_C2H2 103 125 1.12e-3 SMART
ZnF_C2H2 131 153 2.15e-5 SMART
ZnF_C2H2 159 181 5.59e-4 SMART
ZnF_C2H2 187 209 1.98e-4 SMART
ZnF_C2H2 215 237 1.12e-3 SMART
ZnF_C2H2 243 265 6.52e-5 SMART
ZnF_C2H2 271 293 1.12e-3 SMART
ZnF_C2H2 299 321 5.59e-4 SMART
ZnF_C2H2 327 349 4.87e-4 SMART
ZnF_C2H2 355 377 2.61e-4 SMART
ZnF_C2H2 383 405 9.08e-4 SMART
ZnF_C2H2 411 433 4.87e-4 SMART
ZnF_C2H2 439 461 6.88e-4 SMART
ZnF_C2H2 467 489 4.61e-5 SMART
ZnF_C2H2 495 517 8.02e-5 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Aak1 A G 6: 86,963,348 (GRCm39) N926S unknown Het
Ahi1 T A 10: 20,847,977 (GRCm39) C462S probably damaging Het
Ahnak A G 19: 8,980,404 (GRCm39) I563V probably benign Het
Ankrd55 G A 13: 112,459,717 (GRCm39) probably null Het
Bag3 A G 7: 128,125,647 (GRCm39) D22G probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col15a1 T C 4: 47,245,705 (GRCm39) F152S probably damaging Het
Cxcr2 T C 1: 74,198,004 (GRCm39) I166T probably benign Het
Dnah11 T C 12: 117,946,746 (GRCm39) I3113V probably benign Het
Gli2 T C 1: 118,764,974 (GRCm39) H1059R probably benign Het
L1td1 A G 4: 98,625,388 (GRCm39) R528G probably benign Het
Mcm3 A T 1: 20,882,217 (GRCm39) L449* probably null Het
Mif4gd T C 11: 115,499,328 (GRCm39) T185A probably benign Het
Mphosph9 T C 5: 124,403,509 (GRCm39) S840G possibly damaging Het
Nherf4 C T 9: 44,161,041 (GRCm39) S175N probably benign Het
Nim1k C A 13: 120,174,078 (GRCm39) R272L possibly damaging Het
Or5b104 C T 19: 13,072,452 (GRCm39) V187I probably benign Het
Or6c213 T A 10: 129,574,130 (GRCm39) I219F probably damaging Het
Or8k32 A G 2: 86,368,731 (GRCm39) I176T probably damaging Het
Pax3 A G 1: 78,171,961 (GRCm39) V83A probably damaging Het
Pde3b C T 7: 114,133,905 (GRCm39) P974S probably damaging Het
Pglyrp3 T A 3: 91,938,798 (GRCm39) D324E probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Ryr2 A G 13: 11,750,413 (GRCm39) S1953P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox5 A G 6: 143,987,000 (GRCm39) I188T possibly damaging Het
Spata4 T C 8: 55,054,878 (GRCm39) I86T probably benign Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Stk10 T C 11: 32,483,552 (GRCm39) V50A possibly damaging Het
Sytl4 A G,T X: 132,849,972 (GRCm39) S338R probably damaging Homo
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem201 A C 4: 149,815,596 (GRCm39) V118G probably benign Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Ugt2b37 T C 5: 87,401,951 (GRCm39) M227V probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r73 A T 7: 85,519,449 (GRCm39) M503K probably benign Het
Zfp54 T G 17: 21,655,222 (GRCm39) V572G probably damaging Het
Other mutations in Gm14412
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm14412 APN 2 177,007,479 (GRCm39) missense probably benign
R0124:Gm14412 UTSW 2 177,007,705 (GRCm39) splice site probably benign
R0507:Gm14412 UTSW 2 177,006,325 (GRCm39) missense possibly damaging 0.46
R1833:Gm14412 UTSW 2 177,007,583 (GRCm39) missense probably benign 0.00
R1908:Gm14412 UTSW 2 177,007,630 (GRCm39) missense probably benign 0.03
R1908:Gm14412 UTSW 2 177,007,269 (GRCm39) missense probably damaging 1.00
R2026:Gm14412 UTSW 2 177,008,898 (GRCm39) missense possibly damaging 0.92
R2209:Gm14412 UTSW 2 177,009,229 (GRCm39) missense probably damaging 1.00
R2656:Gm14412 UTSW 2 177,006,993 (GRCm39) missense unknown
R3946:Gm14412 UTSW 2 177,006,478 (GRCm39) nonsense probably null
R4537:Gm14412 UTSW 2 177,006,352 (GRCm39) missense probably benign 0.06
R4595:Gm14412 UTSW 2 177,007,005 (GRCm39) missense unknown
R4928:Gm14412 UTSW 2 177,006,373 (GRCm39) missense probably benign 0.01
R5100:Gm14412 UTSW 2 177,006,908 (GRCm39) missense probably damaging 0.99
R5434:Gm14412 UTSW 2 177,006,405 (GRCm39) missense probably damaging 1.00
R5668:Gm14412 UTSW 2 177,007,402 (GRCm39) nonsense probably null
R6173:Gm14412 UTSW 2 177,006,330 (GRCm39) missense probably damaging 1.00
R6558:Gm14412 UTSW 2 177,006,347 (GRCm39) missense probably damaging 0.99
R6784:Gm14412 UTSW 2 177,009,133 (GRCm39) missense probably benign 0.10
R7094:Gm14412 UTSW 2 177,009,138 (GRCm39) missense probably damaging 1.00
R7182:Gm14412 UTSW 2 177,007,408 (GRCm39) missense probably benign 0.44
R7254:Gm14412 UTSW 2 177,009,189 (GRCm39) missense probably damaging 0.97
R7793:Gm14412 UTSW 2 177,007,660 (GRCm39) missense possibly damaging 0.78
R7799:Gm14412 UTSW 2 177,007,590 (GRCm39) missense probably benign 0.01
R8238:Gm14412 UTSW 2 177,007,111 (GRCm39) missense unknown
R9098:Gm14412 UTSW 2 177,006,356 (GRCm39) missense probably damaging 1.00
R9304:Gm14412 UTSW 2 177,007,547 (GRCm39) missense probably benign
R9699:Gm14412 UTSW 2 177,007,636 (GRCm39) nonsense probably null
RF001:Gm14412 UTSW 2 177,008,894 (GRCm39) missense probably benign 0.04
RF007:Gm14412 UTSW 2 177,007,494 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TCTGCAAAGGCTTTACCACATT -3'
(R):5'- CATTTGATTGCTCTTTTCAATGAAACC -3'

Sequencing Primer
(F):5'- AGGTCACAGTTTCTTGCAAAGGC -3'
(R):5'- GTATTTGTAGGCATGAAAGAAG -3'
Posted On 2015-07-21