Incidental Mutation 'R5705:Gnl1'
ID 451949
Institutional Source Beutler Lab
Gene Symbol Gnl1
Ensembl Gene ENSMUSG00000024429
Gene Name guanine nucleotide binding protein-like 1
Synonyms Gnal1, Gna-rs1
MMRRC Submission 043330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R5705 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 36290847-36300354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36292492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 191 (V191I)
Ref Sequence ENSEMBL: ENSMUSP00000084450 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055454] [ENSMUST00000087200] [ENSMUST00000165613] [ENSMUST00000172429] [ENSMUST00000172900] [ENSMUST00000173724] [ENSMUST00000173872] [ENSMUST00000174849] [ENSMUST00000173585]
AlphaFold P36916
Predicted Effect probably benign
Transcript: ENSMUST00000055454
SMART Domains Protein: ENSMUSP00000052166
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 24 48 N/A INTRINSIC
low complexity region 73 95 N/A INTRINSIC
low complexity region 110 120 N/A INTRINSIC
ZnF_C3H1 158 184 3.04e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087200
AA Change: V191I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000084450
Gene: ENSMUSG00000024429
AA Change: V191I

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 31 46 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
SCOP:d1egaa1 179 232 6e-3 SMART
Pfam:MMR_HSR1 362 465 1.4e-13 PFAM
low complexity region 550 583 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165613
SMART Domains Protein: ENSMUSP00000125802
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172429
SMART Domains Protein: ENSMUSP00000129651
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
low complexity region 63 73 N/A INTRINSIC
ZnF_C3H1 111 137 3.04e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172900
SMART Domains Protein: ENSMUSP00000134115
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174275
Predicted Effect probably benign
Transcript: ENSMUST00000173724
Predicted Effect probably benign
Transcript: ENSMUST00000173872
SMART Domains Protein: ENSMUSP00000134021
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 24 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174849
SMART Domains Protein: ENSMUSP00000134505
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173585
SMART Domains Protein: ENSMUSP00000134373
Gene: ENSMUSG00000038500

DomainStartEndE-ValueType
low complexity region 26 48 N/A INTRINSIC
low complexity region 63 73 N/A INTRINSIC
ZnF_C3H1 111 137 3.04e-5 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,276 (GRCm39) V2163A probably benign Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Ago1 T C 4: 126,342,587 (GRCm39) I519V probably benign Het
Arhgap4 G A X: 72,950,423 (GRCm39) R43W probably damaging Het
Aurkb T A 11: 68,939,641 (GRCm39) L213I possibly damaging Het
Bod1l T A 5: 41,974,345 (GRCm39) Q2323L probably benign Het
Calhm5 A T 10: 33,971,989 (GRCm39) C149S probably damaging Het
Ccdc17 C T 4: 116,454,066 (GRCm39) T28I probably benign Het
Ccdc39 T C 3: 33,871,086 (GRCm39) E630G probably damaging Het
Cnih4 A G 1: 180,981,300 (GRCm39) I24V probably benign Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Ctsr A G 13: 61,309,078 (GRCm39) F226L probably damaging Het
Cyp2a22 T C 7: 26,638,640 (GRCm39) N49D probably benign Het
Defb23 C T 2: 152,301,204 (GRCm39) A123T probably benign Het
Dtx2 C A 5: 136,039,149 (GRCm39) D69E probably damaging Het
Eps8l1 T C 7: 4,473,034 (GRCm39) V91A probably benign Het
Eps8l3 C A 3: 107,798,580 (GRCm39) Q489K probably benign Het
Esyt3 A G 9: 99,200,260 (GRCm39) S645P probably benign Het
Fam161a T A 11: 22,978,869 (GRCm39) M472K unknown Het
Glp2r A G 11: 67,600,565 (GRCm39) V428A probably benign Het
Hfm1 T C 5: 107,059,319 (GRCm39) I234M probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hs3st2 T C 7: 120,992,305 (GRCm39) L85P probably damaging Het
Igsf9 T C 1: 172,322,338 (GRCm39) V511A possibly damaging Het
Insyn2b A G 11: 34,354,349 (GRCm39) Y473C probably damaging Het
Kcnma1 A T 14: 24,053,839 (GRCm39) C54S possibly damaging Het
Klhdc4 A G 8: 122,531,732 (GRCm39) V181A probably benign Het
Ldb3 T C 14: 34,298,986 (GRCm39) M213V probably null Het
Mertk C A 2: 128,613,321 (GRCm39) Q446K probably benign Het
Ndufs1 A G 1: 63,186,317 (GRCm39) V46A probably benign Het
Neurod4 A G 10: 130,107,271 (GRCm39) M1T probably null Het
Nlrc5 T A 8: 95,202,385 (GRCm39) C162S probably benign Het
Pald1 A G 10: 61,159,076 (GRCm39) I785T possibly damaging Het
Pcmt1 T C 10: 7,513,954 (GRCm39) I224M possibly damaging Het
Pisd C T 5: 32,894,707 (GRCm39) R533H probably benign Het
Plcxd3 C A 15: 4,546,676 (GRCm39) Q227K probably benign Het
Polr1b A T 2: 128,947,271 (GRCm39) K199* probably null Het
Ppp1r10 T C 17: 36,240,381 (GRCm39) V557A probably damaging Het
Ralgapa2 A G 2: 146,291,193 (GRCm39) Y248H probably damaging Het
Rsrp1 T C 4: 134,651,331 (GRCm39) S32P unknown Het
Setdb2 T G 14: 59,660,814 (GRCm39) S110R possibly damaging Het
Srcin1 A G 11: 97,439,777 (GRCm39) C152R probably benign Het
Syk A G 13: 52,765,083 (GRCm39) N70S probably benign Het
Tlr4 T A 4: 66,752,217 (GRCm39) D59E probably damaging Het
Tm9sf4 T A 2: 153,024,378 (GRCm39) I67N probably benign Het
Trim30b T A 7: 104,006,784 (GRCm39) Y24F probably damaging Het
Tsga13 A G 6: 30,876,951 (GRCm39) S189P probably damaging Het
Tspan33 A G 6: 29,717,232 (GRCm39) D210G probably benign Het
Use1 G T 8: 71,822,331 (GRCm39) R278L probably damaging Het
Wwc1 T C 11: 35,767,423 (GRCm39) N403D probably damaging Het
Zfp263 C T 16: 3,564,318 (GRCm39) P203S probably benign Het
Other mutations in Gnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Gnl1 APN 17 36,298,504 (GRCm39) missense probably benign
IGL03325:Gnl1 APN 17 36,299,548 (GRCm39) missense probably damaging 1.00
lepidoptera UTSW 17 36,298,441 (GRCm39) missense probably damaging 1.00
mariposa UTSW 17 36,298,425 (GRCm39) nonsense probably null
Morning_cloak UTSW 17 36,294,305 (GRCm39) missense probably benign 0.01
papillon UTSW 17 36,298,487 (GRCm39) nonsense probably null
R0648:Gnl1 UTSW 17 36,293,490 (GRCm39) missense probably damaging 1.00
R1611:Gnl1 UTSW 17 36,298,441 (GRCm39) missense probably damaging 1.00
R1781:Gnl1 UTSW 17 36,298,638 (GRCm39) missense probably damaging 1.00
R1897:Gnl1 UTSW 17 36,299,584 (GRCm39) missense possibly damaging 0.73
R2027:Gnl1 UTSW 17 36,293,850 (GRCm39) missense probably benign
R2240:Gnl1 UTSW 17 36,293,571 (GRCm39) missense probably benign 0.04
R3944:Gnl1 UTSW 17 36,299,413 (GRCm39) missense probably benign 0.09
R4569:Gnl1 UTSW 17 36,299,142 (GRCm39) missense probably benign 0.00
R4849:Gnl1 UTSW 17 36,298,603 (GRCm39) splice site probably null
R4969:Gnl1 UTSW 17 36,291,581 (GRCm39) missense possibly damaging 0.62
R5661:Gnl1 UTSW 17 36,293,447 (GRCm39) missense probably benign 0.13
R6372:Gnl1 UTSW 17 36,293,427 (GRCm39) missense probably damaging 1.00
R6520:Gnl1 UTSW 17 36,293,845 (GRCm39) missense probably benign 0.17
R6919:Gnl1 UTSW 17 36,298,425 (GRCm39) nonsense probably null
R7022:Gnl1 UTSW 17 36,299,620 (GRCm39) missense probably damaging 1.00
R7323:Gnl1 UTSW 17 36,294,305 (GRCm39) missense probably benign 0.01
R7537:Gnl1 UTSW 17 36,299,428 (GRCm39) missense probably damaging 1.00
R7693:Gnl1 UTSW 17 36,299,112 (GRCm39) missense probably damaging 0.97
R8232:Gnl1 UTSW 17 36,298,487 (GRCm39) nonsense probably null
R8320:Gnl1 UTSW 17 36,293,490 (GRCm39) missense probably damaging 1.00
R8840:Gnl1 UTSW 17 36,293,486 (GRCm39) missense probably damaging 0.98
R8883:Gnl1 UTSW 17 36,293,490 (GRCm39) missense probably damaging 1.00
R8899:Gnl1 UTSW 17 36,299,608 (GRCm39) missense probably damaging 1.00
R8946:Gnl1 UTSW 17 36,294,479 (GRCm39) missense probably benign 0.12
R9508:Gnl1 UTSW 17 36,299,625 (GRCm39) missense possibly damaging 0.92
X0027:Gnl1 UTSW 17 36,298,693 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTCAGCTACTTTGAGCACAATC -3'
(R):5'- ATGGCAAGCACCTGCAAATC -3'

Sequencing Primer
(F):5'- CAGCTACTTTGAGCACAATCTGGAG -3'
(R):5'- CTTTTGTAGACCAGTATGGACAGCC -3'
Posted On 2017-01-03