Incidental Mutation 'R9290:Myt1'
ID 704196
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9290 (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 T at 181437667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 168 (H168L)
Ref Sequence ENSEMBL: ENSMUSP00000079900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081125] [ENSMUST00000108756] [ENSMUST00000108757] [ENSMUST00000183403]
AlphaFold Q8CFC2
Predicted Effect probably benign
Transcript: ENSMUST00000081125
AA Change: H168L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000079900
Gene: ENSMUSG00000010505
AA Change: H168L

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: H126L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104387
Gene: ENSMUSG00000010505
AA Change: H126L

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: H126L

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104388
Gene: ENSMUSG00000010505
AA Change: H126L

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 probably benign
Transcript: ENSMUST00000129843
SMART Domains Protein: ENSMUSP00000115697
Gene: ENSMUSG00000010505

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
SMART Domains Protein: ENSMUSP00000122011
Gene: ENSMUSG00000010505
AA Change: H159L

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,457,538 (GRCm39) K268R probably damaging Het
Acvr1 T C 2: 58,338,330 (GRCm39) D464G probably damaging Het
Adra1d G T 2: 131,403,898 (GRCm39) T64K probably benign Het
Cct3 T C 3: 88,216,536 (GRCm39) V164A probably benign Het
Cdhr2 T C 13: 54,882,009 (GRCm39) V1153A possibly damaging Het
Cdkn2c A C 4: 109,518,512 (GRCm39) Y147* probably null Het
Ces1g A T 8: 94,029,545 (GRCm39) H562Q probably benign Het
Cfap221 A G 1: 119,853,381 (GRCm39) L771P probably benign Het
Chsy3 A G 18: 59,542,928 (GRCm39) M689V probably benign Het
Ciita T A 16: 10,326,513 (GRCm39) S235T probably damaging Het
Cracdl T A 1: 37,663,634 (GRCm39) R755W probably damaging Het
Dcdc2a A G 13: 25,386,313 (GRCm39) K396E probably benign Het
Dgki C T 6: 37,276,780 (GRCm39) C35Y unknown Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dnai7 T C 6: 145,148,688 (GRCm39) E57G unknown Het
Eif3a A G 19: 60,765,221 (GRCm39) V322A probably damaging Het
Foxp2 A T 6: 15,197,120 (GRCm39) Q54L possibly damaging Het
Garin2 T A 12: 78,759,028 (GRCm39) V116E possibly damaging Het
Gm19410 T A 8: 36,269,386 (GRCm39) C1074S probably damaging Het
Gtf3c3 T G 1: 54,477,997 (GRCm39) E26A possibly damaging Het
Hps5 T C 7: 46,424,331 (GRCm39) E514G probably damaging Het
Ide A T 19: 37,302,647 (GRCm39) D154E Het
Insm1 T C 2: 146,065,273 (GRCm39) V363A probably benign Het
Iqgap2 A T 13: 95,886,523 (GRCm39) M120K probably damaging Het
Kcnh5 T A 12: 75,023,488 (GRCm39) I527F probably benign Het
Lrtm2 A G 6: 119,297,792 (GRCm39) L83P probably damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Mycbp2 A T 14: 103,425,960 (GRCm39) H2421Q probably damaging Het
Myh15 A G 16: 48,997,375 (GRCm39) E1731G probably damaging Het
Nxph4 A T 10: 127,362,546 (GRCm39) V115E probably damaging Het
Ofcc1 A T 13: 40,433,802 (GRCm39) I101N possibly damaging Het
Oog2 T C 4: 143,923,015 (GRCm39) F427L probably benign Het
Or4c115 A G 2: 88,928,076 (GRCm39) L65P probably damaging Het
Or4f14b A T 2: 111,774,967 (GRCm39) I278N possibly damaging Het
Or5w11 A G 2: 87,459,209 (GRCm39) N18S probably benign Het
Or8b48 T C 9: 38,493,334 (GRCm39) S254P probably damaging Het
Or8g27 A G 9: 39,129,531 (GRCm39) R293G probably damaging Het
Otop1 T G 5: 38,455,302 (GRCm39) I232S probably benign Het
Pak6 G A 2: 118,523,883 (GRCm39) R346Q probably damaging Het
Pbk A T 14: 66,054,713 (GRCm39) M282L probably benign Het
Pmpcb T C 5: 21,944,009 (GRCm39) probably null Het
Pou5f2 T A 13: 78,173,585 (GRCm39) W176R probably damaging Het
Prkra G T 2: 76,478,147 (GRCm39) S18R probably benign Het
Prune2 G T 19: 17,145,691 (GRCm39) A2764S probably benign Het
Ptpdc1 A T 13: 48,740,221 (GRCm39) D403E probably benign Het
Pxylp1 T C 9: 96,722,089 (GRCm39) E54G probably damaging Het
Rap1gap G A 4: 137,446,222 (GRCm39) A325T probably damaging Het
Raver2 G A 4: 100,977,387 (GRCm39) probably benign Het
Rbpj T C 5: 53,810,745 (GRCm39) V455A probably damaging Het
Rptor A T 11: 119,702,823 (GRCm39) I397F probably benign Het
Sacs G A 14: 61,421,499 (GRCm39) M148I probably benign Het
Sec16b A G 1: 157,373,816 (GRCm39) Q496R probably damaging Het
Sned1 C A 1: 93,199,385 (GRCm39) C488* probably null Het
Snupn G T 9: 56,882,547 (GRCm39) V187F possibly damaging Het
Sorcs2 T C 5: 36,183,225 (GRCm39) D1016G probably damaging Het
Spta1 T C 1: 174,045,204 (GRCm39) M1517T possibly damaging Het
Them4 G T 3: 94,231,630 (GRCm39) G156C probably damaging Het
Tnik T C 3: 28,675,124 (GRCm39) S721P probably benign Het
Trpm8 T C 1: 88,246,767 (GRCm39) S26P probably damaging Het
Ube2e3 A G 2: 78,750,324 (GRCm39) I183M probably damaging Het
Uhrf2 A G 19: 30,055,416 (GRCm39) Y389C probably damaging Het
Utp4 T A 8: 107,642,828 (GRCm39) D495E possibly damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Vmn1r219 G A 13: 23,347,399 (GRCm39) G196E probably damaging Het
Vmn2r101 C T 17: 19,811,395 (GRCm39) S493L probably benign Het
Vmn2r61 A G 7: 41,915,385 (GRCm39) T111A probably benign Het
Zbtb40 G T 4: 136,745,529 (GRCm39) A168E probably benign Het
Zscan18 A T 7: 12,508,054 (GRCm39) I482N probably 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
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
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'- TTTCAGCTTACAGAGTTGCCC -3'
(R):5'- AAGCTGCACATGTCAGGAC -3'

Sequencing Primer
(F):5'- TGAGACTGAGCACCTGGTATC -3'
(R):5'- TGTCAGGACAAGACATTCCTTG -3'
Posted On 2022-03-25