Incidental Mutation 'R6944:Myt1'
ID 540755
Institutional Source Beutler Lab
Gene Symbol Myt1
Ensembl Gene ENSMUSG00000010505
Gene Name myelin transcription factor 1
Synonyms NZF-2b, NZF-2a, Nztf2, Nzf2
MMRRC Submission 045058-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6944 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181405125-181469590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181439387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 345 (E345G)
Ref Sequence ENSEMBL: ENSMUSP00000079900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000183403]
AlphaFold Q8CFC2
Predicted Effect possibly damaging
Transcript: ENSMUST00000081125
AA Change: E345G

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: E345G

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 benign
Transcript: ENSMUST00000108756
AA Change: E303G

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: E303G

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 benign
Transcript: ENSMUST00000108757
AA Change: E303G

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: E303G

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 unknown
Transcript: ENSMUST00000129843
AA Change: E6G
SMART Domains Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505
AA Change: E6G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 97% (75/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,863,693 (GRCm39) V216G probably damaging Het
Abcb5 T C 12: 118,875,265 (GRCm39) R636G probably benign Het
Ago1 G T 4: 126,354,215 (GRCm39) F198L possibly damaging Het
Ankrd42 C T 7: 92,268,755 (GRCm39) probably null Het
Anxa11 T A 14: 25,875,176 (GRCm39) F274I probably damaging Het
Ascc1 T C 10: 59,849,475 (GRCm39) L122P probably damaging Het
Bptf T C 11: 106,971,649 (GRCm39) S953G probably damaging Het
Chml T A 1: 175,515,727 (GRCm39) N65Y probably damaging Het
Clcc1 A G 3: 108,578,284 (GRCm39) K262E probably damaging Het
Clhc1 T G 11: 29,519,346 (GRCm39) D384E probably damaging Het
Cnot2 G A 10: 116,373,128 (GRCm39) probably benign Het
Cntnap1 T C 11: 101,073,730 (GRCm39) V627A probably damaging Het
Col6a4 A G 9: 105,949,370 (GRCm39) V755A probably damaging Het
Cyp4f18 T A 8: 72,743,738 (GRCm39) I406F probably benign Het
Dclre1a T C 19: 56,533,451 (GRCm39) E381G possibly damaging Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Dnah8 C A 17: 31,013,633 (GRCm39) D3791E probably benign Het
Dnah9 T C 11: 65,975,975 (GRCm39) E1358G possibly damaging Het
Eef1g G A 19: 8,945,656 (GRCm39) R30H probably benign Het
Egln3 A T 12: 54,230,738 (GRCm39) I181N probably benign Het
Entpd6 A G 2: 150,605,519 (GRCm39) T250A probably damaging Het
Epb41l5 C T 1: 119,536,859 (GRCm39) R344Q probably damaging Het
Fam20b T C 1: 156,515,091 (GRCm39) D258G probably benign Het
Fbxw18 A T 9: 109,531,655 (GRCm39) D21E probably damaging Het
Fbxw21 T C 9: 108,986,603 (GRCm39) E92G probably damaging Het
Fzd6 T A 15: 38,889,212 (GRCm39) M110K possibly damaging Het
Golgb1 C T 16: 36,732,475 (GRCm39) P574L probably benign Het
Gpr153 A G 4: 152,363,820 (GRCm39) E80G probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Kcnt1 T C 2: 25,767,840 (GRCm39) probably benign Het
Kcnt2 T G 1: 140,511,803 (GRCm39) V962G probably benign Het
Malt1 T C 18: 65,570,991 (GRCm39) V109A probably benign Het
Marchf7 A G 2: 60,064,587 (GRCm39) I288V probably benign Het
Mief1 C T 15: 80,133,644 (GRCm39) R234C probably damaging Het
Morc3 A G 16: 93,667,460 (GRCm39) S613G probably benign Het
Napb T C 2: 148,548,889 (GRCm39) T133A probably benign Het
Nwd1 T C 8: 73,380,162 (GRCm39) V16A possibly damaging Het
Oas1f G A 5: 120,986,247 (GRCm39) E67K probably benign Het
Obscn T C 11: 58,929,756 (GRCm39) K5153R probably damaging Het
Or2w3b T A 11: 58,623,068 (GRCm39) S308C possibly damaging Het
Or5a3 G T 19: 12,400,628 (GRCm39) M318I probably benign Het
Or5g26 C T 2: 85,494,195 (GRCm39) M194I probably benign Het
Or6d12 T C 6: 116,492,791 (GRCm39) F18L possibly damaging Het
Pdcd2 T C 17: 15,745,632 (GRCm39) N185S possibly damaging Het
Pgap1 A T 1: 54,569,320 (GRCm39) W349R probably damaging Het
Prpf39 T A 12: 65,089,454 (GRCm39) V64E probably benign Het
Ptpn13 T A 5: 103,624,857 (GRCm39) W54R probably null Het
Rbms3 G T 9: 116,939,173 (GRCm39) P29Q probably damaging Het
Rnf123 A G 9: 107,940,822 (GRCm39) L679P probably benign Het
Samd4 T A 14: 47,254,092 (GRCm39) D84E possibly damaging Het
Scarf1 T C 11: 75,413,032 (GRCm39) V426A probably benign Het
Slc12a1 A G 2: 125,002,454 (GRCm39) N145D probably damaging Het
Slc2a6 A T 2: 26,916,076 (GRCm39) M99K probably damaging Het
Slc34a2 A T 5: 53,222,225 (GRCm39) I306L probably benign Het
Slx4ip A G 2: 136,910,195 (GRCm39) K397E probably damaging Het
Smr3a C T 5: 88,155,949 (GRCm39) probably benign Het
Spata31h1 A C 10: 82,132,056 (GRCm39) I318R probably benign Het
Spef2 T C 15: 9,592,835 (GRCm39) E1502G probably damaging Het
Sri A T 5: 8,113,365 (GRCm39) T119S probably benign Het
Synrg T A 11: 83,915,912 (GRCm39) L1085H probably damaging Het
Taf7 A T 18: 37,775,910 (GRCm39) L219H probably damaging Het
Tmco3 T A 8: 13,353,729 (GRCm39) V347E probably damaging Het
Tmem8b A T 4: 43,674,465 (GRCm39) I250F probably damaging Het
Tom1l2 A G 11: 60,139,817 (GRCm39) V239A probably damaging Het
Trpm1 T A 7: 63,893,181 (GRCm39) M1011K probably damaging Het
Tspan9 A T 6: 127,942,769 (GRCm39) Y153N probably benign Het
Ttll11 T C 2: 35,642,306 (GRCm39) H675R probably benign Het
Unc50 C T 1: 37,471,743 (GRCm39) T131M probably damaging Het
Vgf T A 5: 137,061,206 (GRCm39) I456N probably damaging Het
Vmn1r223 A G 13: 23,433,483 (GRCm39) I26V unknown Het
Vmn1r39 T C 6: 66,782,205 (GRCm39) M1V probably null Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r14 T C 5: 109,363,925 (GRCm39) T664A probably benign Het
Vmn2r14 G A 5: 109,364,140 (GRCm39) T592I probably benign Het
Vmn2r96 T A 17: 18,817,891 (GRCm39) F489L probably benign Het
Vmn2r-ps158 T C 7: 42,697,393 (GRCm39) F817L possibly damaging 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
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
RF006:Myt1 UTSW 2 181,439,566 (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'- ACAAGTGAACGTTCCCAGG -3'
(R):5'- TTCTGGGAGCGTGAATCCTC -3'

Sequencing Primer
(F):5'- CCCCAGTCTCTGAAGGATATGGTTAG -3'
(R):5'- GGAGCGTGAATCCTCATCCTTG -3'
Posted On 2018-11-28