Incidental Mutation 'RF006:Myt1'
ID 602807
Institutional Source Beutler Lab
Gene Symbol Myt1
Ensembl Gene ENSMUSG00000010505
Gene Name myelin transcription factor 1
Synonyms NZF-2b, NZF-2a, Nztf2, Nzf2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF006 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181405125-181469590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181439566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 405 (S405P)
Ref Sequence ENSEMBL: ENSMUSP00000079900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000183403]
AlphaFold Q8CFC2
Predicted Effect probably damaging
Transcript: ENSMUST00000081125
AA Change: S405P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: S405P

DomainStartEndE-ValueType
Pfam:zf-C2HC 71 99 8.7e-16 PFAM
low complexity region 155 160 N/A INTRINSIC
low complexity region 185 201 N/A INTRINSIC
coiled coil region 300 354 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Pfam:zf-C2HC 485 512 2.9e-14 PFAM
Pfam:zf-C2HC 529 557 4.3e-16 PFAM
Pfam:MYT1 604 660 2e-28 PFAM
Pfam:MYT1 659 835 2.3e-56 PFAM
Pfam:zf-C2HC 843 871 2e-18 PFAM
Pfam:zf-C2HC 887 915 1.9e-18 PFAM
Pfam:zf-C2HC 936 964 2.1e-16 PFAM
Pfam:zf-C2HC 989 1017 8.4e-16 PFAM
coiled coil region 1037 1109 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108756
AA Change: S363P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: S363P

DomainStartEndE-ValueType
Pfam:zf-C2HC 27 57 5.1e-18 PFAM
low complexity region 113 118 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 258 312 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:zf-C2HC 441 471 5e-17 PFAM
Pfam:zf-C2HC 485 515 3.1e-18 PFAM
Pfam:MYT1 562 618 2.4e-32 PFAM
Pfam:MYT1 617 794 2e-74 PFAM
Pfam:zf-C2HC 799 829 1.9e-19 PFAM
Pfam:zf-C2HC 843 873 9.7e-20 PFAM
Pfam:zf-C2HC 892 922 2.2e-18 PFAM
Pfam:zf-C2HC 945 975 1.7e-16 PFAM
coiled coil region 995 1067 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108757
AA Change: S363P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: S363P

DomainStartEndE-ValueType
Pfam:zf-C2HC 27 57 1e-17 PFAM
low complexity region 113 118 N/A INTRINSIC
low complexity region 143 159 N/A INTRINSIC
coiled coil region 258 312 N/A INTRINSIC
low complexity region 346 363 N/A INTRINSIC
Pfam:zf-C2HC 441 471 1e-16 PFAM
Pfam:zf-C2HC 485 510 6.2e-12 PFAM
Pfam:MYT1 524 580 2.7e-32 PFAM
Pfam:MYT1 579 756 2.3e-74 PFAM
Pfam:zf-C2HC 761 791 3.8e-19 PFAM
Pfam:zf-C2HC 805 835 1.9e-19 PFAM
Pfam:zf-C2HC 854 884 4.3e-18 PFAM
Pfam:zf-C2HC 907 937 3.3e-16 PFAM
coiled coil region 957 1029 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: S66P

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
Pfam:zf-C2HC 147 174 6.2e-15 PFAM
Pfam:zf-C2HC 191 219 9.2e-17 PFAM
Pfam:MYT1 266 322 7.3e-29 PFAM
Pfam:MYT1 321 497 7.2e-57 PFAM
Pfam:zf-C2HC 505 533 9.6e-19 PFAM
Pfam:zf-C2HC 554 582 4.4e-17 PFAM
Pfam:zf-C2HC 607 635 1.8e-16 PFAM
coiled coil region 654 726 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129856
SMART Domains Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505

DomainStartEndE-ValueType
Pfam:zf-C2HC 63 91 1.4e-16 PFAM
low complexity region 147 152 N/A INTRINSIC
Pfam:zf-C2HC 177 204 4.6e-15 PFAM
Pfam:zf-C2HC 221 249 6.7e-17 PFAM
Pfam:MYT1 296 352 5.2e-29 PFAM
Pfam:MYT1 351 527 4.5e-57 PFAM
Pfam:zf-C2HC 535 556 1.4e-13 PFAM
Pfam:zf-C2HC 556 584 3.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183403
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: This gene is a member of the myelin transcription factor 1 gene family. The encoded protein, a zinc finger DNA-binding protein, is involved in regulation of oligodendrocyte differentiation and proliferation in the developing central nervous system. The gene product has a role in remyelination through regeneration of oligodendrocyte lineage cells in response to demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kcnh3 T A 15: 99,137,809 (GRCm39) probably null Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Other mutations in Myt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Myt1 APN 2 181,442,908 (GRCm39) missense probably damaging 1.00
IGL00816:Myt1 APN 2 181,449,308 (GRCm39) missense probably damaging 0.97
IGL01062:Myt1 APN 2 181,439,522 (GRCm39) missense probably damaging 1.00
IGL01069:Myt1 APN 2 181,467,749 (GRCm39) missense probably damaging 1.00
IGL01292:Myt1 APN 2 181,446,805 (GRCm39) missense probably damaging 1.00
IGL01521:Myt1 APN 2 181,467,704 (GRCm39) missense probably damaging 1.00
IGL01926:Myt1 APN 2 181,463,790 (GRCm39) missense probably benign 0.00
IGL01976:Myt1 APN 2 181,437,532 (GRCm39) missense probably damaging 1.00
IGL02066:Myt1 APN 2 181,438,982 (GRCm39) missense probably damaging 1.00
IGL02109:Myt1 APN 2 181,457,410 (GRCm39) splice site probably benign
IGL02209:Myt1 APN 2 181,439,027 (GRCm39) missense probably benign 0.06
IGL02499:Myt1 APN 2 181,467,342 (GRCm39) splice site probably benign
IGL03064:Myt1 APN 2 181,439,594 (GRCm39) missense probably benign 0.31
IGL03394:Myt1 APN 2 181,439,638 (GRCm39) missense probably damaging 1.00
PIT4366001:Myt1 UTSW 2 181,467,731 (GRCm39) missense probably damaging 1.00
R0003:Myt1 UTSW 2 181,443,664 (GRCm39) missense probably damaging 1.00
R0003:Myt1 UTSW 2 181,443,664 (GRCm39) missense probably damaging 1.00
R0362:Myt1 UTSW 2 181,405,186 (GRCm39) unclassified probably benign
R0627:Myt1 UTSW 2 181,437,482 (GRCm39) missense probably benign 0.10
R0650:Myt1 UTSW 2 181,424,408 (GRCm39) nonsense probably null
R0735:Myt1 UTSW 2 181,449,180 (GRCm39) unclassified probably benign
R0744:Myt1 UTSW 2 181,439,298 (GRCm39) intron probably benign
R1115:Myt1 UTSW 2 181,453,024 (GRCm39) nonsense probably null
R1460:Myt1 UTSW 2 181,444,725 (GRCm39) missense probably damaging 1.00
R1471:Myt1 UTSW 2 181,438,904 (GRCm39) missense probably benign
R1836:Myt1 UTSW 2 181,439,068 (GRCm39) missense probably benign
R1905:Myt1 UTSW 2 181,439,549 (GRCm39) missense probably damaging 1.00
R2007:Myt1 UTSW 2 181,437,552 (GRCm39) missense probably benign
R2040:Myt1 UTSW 2 181,467,717 (GRCm39) missense probably damaging 1.00
R2140:Myt1 UTSW 2 181,467,772 (GRCm39) missense probably damaging 1.00
R2323:Myt1 UTSW 2 181,448,350 (GRCm39) missense probably damaging 1.00
R2926:Myt1 UTSW 2 181,467,803 (GRCm39) missense possibly damaging 0.93
R3895:Myt1 UTSW 2 181,461,863 (GRCm39) missense probably damaging 1.00
R4093:Myt1 UTSW 2 181,453,191 (GRCm39) missense probably damaging 1.00
R4649:Myt1 UTSW 2 181,439,207 (GRCm39) missense probably benign
R4693:Myt1 UTSW 2 181,437,532 (GRCm39) missense probably damaging 1.00
R4775:Myt1 UTSW 2 181,464,470 (GRCm39) missense probably damaging 1.00
R4835:Myt1 UTSW 2 181,439,255 (GRCm39) missense probably damaging 0.99
R5111:Myt1 UTSW 2 181,437,678 (GRCm39) missense probably benign 0.01
R5120:Myt1 UTSW 2 181,439,413 (GRCm39) missense probably benign 0.25
R5622:Myt1 UTSW 2 181,438,915 (GRCm39) missense probably benign
R6457:Myt1 UTSW 2 181,405,218 (GRCm39) splice site probably null
R6704:Myt1 UTSW 2 181,453,005 (GRCm39) start codon destroyed probably null
R6752:Myt1 UTSW 2 181,442,875 (GRCm39) missense probably damaging 1.00
R6944:Myt1 UTSW 2 181,439,387 (GRCm39) missense possibly damaging 0.52
R7337:Myt1 UTSW 2 181,444,756 (GRCm39) missense possibly damaging 0.71
R7362:Myt1 UTSW 2 181,439,033 (GRCm39) missense probably benign 0.00
R7368:Myt1 UTSW 2 181,424,384 (GRCm39) missense possibly damaging 0.53
R7385:Myt1 UTSW 2 181,409,498 (GRCm39) splice site probably null
R7411:Myt1 UTSW 2 181,456,899 (GRCm39) missense probably damaging 1.00
R7593:Myt1 UTSW 2 181,439,532 (GRCm39) missense possibly damaging 0.54
R7790:Myt1 UTSW 2 181,439,390 (GRCm39) missense probably benign 0.00
R8035:Myt1 UTSW 2 181,437,532 (GRCm39) missense probably damaging 1.00
R8156:Myt1 UTSW 2 181,464,554 (GRCm39) critical splice donor site probably null
R8338:Myt1 UTSW 2 181,443,655 (GRCm39) missense possibly damaging 0.94
R8419:Myt1 UTSW 2 181,424,399 (GRCm39) nonsense probably null
R8553:Myt1 UTSW 2 181,439,344 (GRCm39) missense possibly damaging 0.91
R9071:Myt1 UTSW 2 181,448,420 (GRCm39) missense possibly damaging 0.87
R9144:Myt1 UTSW 2 181,467,805 (GRCm39) missense possibly damaging 0.95
R9290:Myt1 UTSW 2 181,437,667 (GRCm39) missense probably benign 0.31
R9462:Myt1 UTSW 2 181,467,729 (GRCm39) nonsense probably null
R9502:Myt1 UTSW 2 181,461,991 (GRCm39) missense probably damaging 0.98
R9668:Myt1 UTSW 2 181,452,135 (GRCm39) missense probably damaging 1.00
R9700:Myt1 UTSW 2 181,452,177 (GRCm39) missense probably damaging 1.00
Z1177:Myt1 UTSW 2 181,449,395 (GRCm39) missense probably damaging 1.00
Z1177:Myt1 UTSW 2 181,438,955 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCAGAAAGGAGTCCTAGGTC -3'
(R):5'- ATCAGAGCAGGCCACTTTAG -3'

Sequencing Primer
(F):5'- AGTCCTAGGTCATGAGGAGG -3'
(R):5'- TTCCTCACCACGTCCAGGG -3'
Posted On 2019-12-04