Incidental Mutation 'R5428:Myt1l'
ID 427028
Institutional Source Beutler Lab
Gene Symbol Myt1l
Ensembl Gene ENSMUSG00000061911
Gene Name myelin transcription factor 1-like
Synonyms 2900093J19Rik, Png-1, 2900046C06Rik, C630034G21Rik, Nztf1, Pmng1
MMRRC Submission 042994-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5428 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 29578383-29973212 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29882331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 509 (G509R)
Ref Sequence ENSEMBL: ENSMUSP00000151588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021009] [ENSMUST00000049784] [ENSMUST00000218583]
AlphaFold P97500
Predicted Effect unknown
Transcript: ENSMUST00000021009
AA Change: G509R
SMART Domains Protein: ENSMUSP00000021009
Gene: ENSMUSG00000061911
AA Change: G509R

DomainStartEndE-ValueType
Pfam:zf-C2HC 28 58 8.3e-19 PFAM
coiled coil region 148 182 N/A INTRINSIC
low complexity region 188 200 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
Pfam:zf-C2HC 502 532 1.1e-16 PFAM
Pfam:zf-C2HC 546 576 4e-18 PFAM
Pfam:MYT1 620 872 2.7e-135 PFAM
Pfam:zf-C2HC 901 931 8.4e-20 PFAM
Pfam:zf-C2HC 950 980 1.2e-18 PFAM
Pfam:zf-C2HC 1003 1033 1.1e-17 PFAM
coiled coil region 1055 1130 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000049784
AA Change: G511R
SMART Domains Protein: ENSMUSP00000058264
Gene: ENSMUSG00000061911
AA Change: G511R

DomainStartEndE-ValueType
Pfam:zf-C2HC 30 58 5.1e-18 PFAM
coiled coil region 148 182 N/A INTRINSIC
low complexity region 188 200 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
Pfam:zf-C2HC 506 533 9.9e-15 PFAM
Pfam:zf-C2HC 550 578 2.4e-16 PFAM
Pfam:MYT1 622 873 2.7e-122 PFAM
Pfam:zf-C2HC 905 933 6.3e-19 PFAM
Pfam:zf-C2HC 954 982 1.6e-18 PFAM
Pfam:zf-C2HC 1007 1035 1.4e-16 PFAM
coiled coil region 1057 1132 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000218583
AA Change: G509R
Meta Mutation Damage Score 0.6392 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,635,918 (GRCm39) V324L probably benign Het
Abl2 T C 1: 156,469,681 (GRCm39) C982R probably damaging Het
Adgrl4 G A 3: 151,248,323 (GRCm39) C665Y probably damaging Het
Adra1d A G 2: 131,403,323 (GRCm39) S256P probably damaging Het
Aipl1 T A 11: 71,921,313 (GRCm39) Y194F probably benign Het
Arfgef1 C A 1: 10,231,060 (GRCm39) D1150Y probably damaging Het
Arl14epl A T 18: 47,059,387 (GRCm39) M1L possibly damaging Het
Colgalt1 G T 8: 72,075,420 (GRCm39) R442L probably damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dach1 A G 14: 98,406,705 (GRCm39) V14A unknown Het
Defa30 A G 8: 21,625,419 (GRCm39) D61G probably benign Het
Dnaja2 A T 8: 86,266,804 (GRCm39) C308S probably benign Het
Emc4 A G 2: 112,197,700 (GRCm39) probably benign Het
Foxp1 A G 6: 98,993,592 (GRCm39) V104A probably damaging Het
Fry T G 5: 150,328,824 (GRCm39) L1319R possibly damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja10 T A 4: 32,601,169 (GRCm39) H405L probably benign Het
Gm27047 A G 6: 130,607,527 (GRCm39) noncoding transcript Het
Grm1 T A 10: 10,595,307 (GRCm39) T774S probably damaging Het
Gtse1 A C 15: 85,746,340 (GRCm39) D52A probably benign Het
Kctd17 T A 15: 78,312,982 (GRCm39) F42Y probably damaging Het
Kndc1 A G 7: 139,488,878 (GRCm39) K178E probably damaging Het
Lrrc74b T C 16: 17,376,125 (GRCm39) E175G probably damaging Het
Macf1 A G 4: 123,278,661 (GRCm39) I5927T probably damaging Het
Maml2 A G 9: 13,617,191 (GRCm39) N935S probably benign Het
Man2a1 A G 17: 65,019,295 (GRCm39) I720V probably benign Het
Map3k5 C T 10: 19,899,399 (GRCm39) H219Y possibly damaging Het
Map4k5 T C 12: 69,884,787 (GRCm39) T314A possibly damaging Het
Mast3 A G 8: 71,237,377 (GRCm39) V615A possibly damaging Het
Mcmbp C T 7: 128,306,248 (GRCm39) V457I probably benign Het
Nacc1 T C 8: 85,402,783 (GRCm39) I337V probably damaging Het
Nipbl T C 15: 8,359,780 (GRCm39) D1475G probably benign Het
Orc1 T A 4: 108,457,137 (GRCm39) D392E probably benign Het
Pappa2 T C 1: 158,642,355 (GRCm39) T1297A possibly damaging Het
Plag1 C T 4: 3,905,538 (GRCm39) V51I possibly damaging Het
Ppp1r12a G A 10: 108,089,208 (GRCm39) E616K possibly damaging Het
Ptgs1 A G 2: 36,135,280 (GRCm39) M415V probably benign Het
Ralgapa2 C T 2: 146,176,414 (GRCm39) E1683K probably damaging Het
Rap2a T A 14: 120,716,406 (GRCm39) F90I probably benign Het
Rcvrn A G 11: 67,590,875 (GRCm39) E153G possibly damaging Het
Sharpin C A 15: 76,234,866 (GRCm39) probably benign Het
Skil T A 3: 31,151,647 (GRCm39) D56E probably benign Het
Slc22a18 G T 7: 143,033,082 (GRCm39) G57W probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Synj1 T C 16: 90,788,406 (GRCm39) D154G probably damaging Het
Tbc1d24 A T 17: 24,400,746 (GRCm39) N156K probably benign Het
Tcea1 A T 1: 4,950,568 (GRCm39) probably benign Het
Tmc3 T C 7: 83,261,755 (GRCm39) V611A probably damaging Het
Tnrc6c A G 11: 117,591,588 (GRCm39) M1V probably null Het
Tomm5 A T 4: 45,106,689 (GRCm39) probably benign Het
Ttc6 A G 12: 57,736,620 (GRCm39) K1207R probably null Het
Ttn T C 2: 76,591,448 (GRCm39) T12747A possibly damaging Het
Ttn A T 2: 76,715,480 (GRCm39) probably benign Het
Utrn T C 10: 12,569,175 (GRCm39) D1147G probably benign Het
Vmn1r53 T C 6: 90,200,395 (GRCm39) I310V probably benign Het
Washc4 A C 10: 83,410,386 (GRCm39) D658A probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Ylpm1 T C 12: 85,077,003 (GRCm39) F1243L probably benign Het
Zbtb24 T C 10: 41,340,784 (GRCm39) S605P probably benign Het
Zfy1 T G Y: 726,205 (GRCm39) H520P possibly damaging Het
Other mutations in Myt1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Myt1l APN 12 29,877,423 (GRCm39) missense unknown
IGL00896:Myt1l APN 12 29,876,885 (GRCm39) missense unknown
IGL01653:Myt1l APN 12 29,960,770 (GRCm39) missense unknown
IGL02632:Myt1l APN 12 29,964,292 (GRCm39) missense unknown
IGL03088:Myt1l APN 12 29,970,476 (GRCm39) missense probably benign 0.03
IGL03212:Myt1l APN 12 29,877,819 (GRCm39) missense unknown
BB003:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
BB013:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
R0057:Myt1l UTSW 12 29,892,611 (GRCm39) splice site probably null
R0126:Myt1l UTSW 12 29,901,719 (GRCm39) missense possibly damaging 0.91
R0356:Myt1l UTSW 12 29,861,500 (GRCm39) missense unknown
R0538:Myt1l UTSW 12 29,892,570 (GRCm39) missense possibly damaging 0.47
R0587:Myt1l UTSW 12 29,861,634 (GRCm39) missense unknown
R0629:Myt1l UTSW 12 29,861,484 (GRCm39) missense unknown
R0709:Myt1l UTSW 12 29,877,732 (GRCm39) missense unknown
R0736:Myt1l UTSW 12 29,877,813 (GRCm39) missense unknown
R0920:Myt1l UTSW 12 29,936,138 (GRCm39) missense unknown
R1618:Myt1l UTSW 12 29,877,396 (GRCm39) missense unknown
R1660:Myt1l UTSW 12 29,945,272 (GRCm39) missense unknown
R1716:Myt1l UTSW 12 29,861,537 (GRCm39) missense unknown
R1758:Myt1l UTSW 12 29,877,241 (GRCm39) missense unknown
R1852:Myt1l UTSW 12 29,901,660 (GRCm39) missense probably benign 0.27
R1971:Myt1l UTSW 12 29,877,091 (GRCm39) missense unknown
R2120:Myt1l UTSW 12 29,833,618 (GRCm39) critical splice acceptor site probably null
R2227:Myt1l UTSW 12 29,876,969 (GRCm39) missense unknown
R2865:Myt1l UTSW 12 29,960,788 (GRCm39) missense probably benign 0.00
R4587:Myt1l UTSW 12 29,960,800 (GRCm39) missense unknown
R4603:Myt1l UTSW 12 29,892,539 (GRCm39) missense probably benign 0.01
R4659:Myt1l UTSW 12 29,899,456 (GRCm39) missense probably damaging 0.98
R4734:Myt1l UTSW 12 29,969,925 (GRCm39) missense possibly damaging 0.90
R4786:Myt1l UTSW 12 29,861,457 (GRCm39) missense unknown
R4824:Myt1l UTSW 12 29,899,399 (GRCm39) missense probably benign 0.02
R4835:Myt1l UTSW 12 29,945,304 (GRCm39) missense unknown
R4888:Myt1l UTSW 12 29,936,138 (GRCm39) missense unknown
R4976:Myt1l UTSW 12 29,882,302 (GRCm39) missense unknown
R4980:Myt1l UTSW 12 29,877,038 (GRCm39) missense unknown
R5119:Myt1l UTSW 12 29,882,302 (GRCm39) missense unknown
R5194:Myt1l UTSW 12 29,861,647 (GRCm39) missense unknown
R5247:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5249:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5427:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5429:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5431:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5628:Myt1l UTSW 12 29,861,620 (GRCm39) missense unknown
R5926:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R5959:Myt1l UTSW 12 29,970,039 (GRCm39) critical splice donor site probably null
R6082:Myt1l UTSW 12 29,892,518 (GRCm39) missense probably damaging 1.00
R6082:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6084:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6086:Myt1l UTSW 12 29,882,331 (GRCm39) missense unknown
R6145:Myt1l UTSW 12 29,882,380 (GRCm39) missense unknown
R6293:Myt1l UTSW 12 29,877,627 (GRCm39) missense unknown
R6315:Myt1l UTSW 12 29,877,797 (GRCm39) missense unknown
R6458:Myt1l UTSW 12 29,945,298 (GRCm39) missense unknown
R6490:Myt1l UTSW 12 29,882,365 (GRCm39) missense unknown
R6758:Myt1l UTSW 12 29,892,599 (GRCm39) missense possibly damaging 0.94
R7230:Myt1l UTSW 12 29,833,873 (GRCm39) missense probably damaging 0.99
R7330:Myt1l UTSW 12 29,901,553 (GRCm39) missense unknown
R7545:Myt1l UTSW 12 29,877,087 (GRCm39) missense unknown
R7662:Myt1l UTSW 12 29,876,868 (GRCm39) missense unknown
R7744:Myt1l UTSW 12 29,877,548 (GRCm39) missense unknown
R7926:Myt1l UTSW 12 29,861,651 (GRCm39) missense unknown
R8832:Myt1l UTSW 12 29,970,351 (GRCm39) missense unknown
R8903:Myt1l UTSW 12 29,861,468 (GRCm39) missense unknown
R8923:Myt1l UTSW 12 29,960,800 (GRCm39) missense unknown
R8935:Myt1l UTSW 12 29,877,243 (GRCm39) missense unknown
R8944:Myt1l UTSW 12 29,861,564 (GRCm39) missense unknown
R9000:Myt1l UTSW 12 29,901,740 (GRCm39) missense unknown
R9329:Myt1l UTSW 12 29,901,659 (GRCm39) missense unknown
R9523:Myt1l UTSW 12 29,877,611 (GRCm39) missense unknown
R9599:Myt1l UTSW 12 29,943,441 (GRCm39) missense unknown
U24488:Myt1l UTSW 12 29,876,895 (GRCm39) missense unknown
Z1177:Myt1l UTSW 12 29,892,467 (GRCm39) missense unknown
Z1177:Myt1l UTSW 12 29,861,430 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTTATCATGTAACACACGGG -3'
(R):5'- TGCCATGAAGATGAGGTTGG -3'

Sequencing Primer
(F):5'- GCAAAAGCCTGCTGTCCCAG -3'
(R):5'- TTGGGGAAGGGATGATTGAC -3'
Posted On 2016-09-01