Mutagenetix > Incidental Mutation

Incidental Mutation 'R5267:Mycl'

401753

Institutional Source

Beutler Lab

Gene Symbol

Mycl

Ensembl Gene

ENSMUSG00000028654

Gene Name

v-myc avian myelocytomatosis viral oncogene lung carcinoma derived

Synonyms

bHLHe38, Lmyc-1, Mycl1, Lmyc1, L-myc

MMRRC Submission

042859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122889445-122896278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122894289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 363 (A363V)

Ref Sequence

ENSEMBL: ENSMUSP00000101859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030407] [ENSMUST00000106252] [ENSMUST00000144998]

AlphaFold

P10166

Predicted Effect

probably damaging
Transcript: ENSMUST00000030407
AA Change: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030407
Gene: ENSMUSG00000028654
AA Change: A363V

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	161	6.7e-29	PFAM
Pfam:Myc_N	137	230	1.1e-11	PFAM
HLH	291	343	6.07e-14	SMART
low complexity region	348	361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106252
AA Change: A363V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101859
Gene: ENSMUSG00000028654
AA Change: A363V

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	157	3.4e-31	PFAM
Pfam:Myc_N	116	231	1e-9	PFAM
HLH	291	343	6.07e-14	SMART
low complexity region	348	361	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135925

Predicted Effect

probably benign
Transcript: ENSMUST00000144998

SMART Domains

Protein: ENSMUSP00000117232
Gene: ENSMUSG00000028654

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	58	7.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147259

Meta Mutation Damage Score

0.1480

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: This gene encodes a basic helix-loop-helix leucine zipper (bHLHZip) protein that heterodimerizes with another bHLHZip protein to drive transcription of targets important for proliferation, apoptosis and differentiation. Mice lacking this gene product show marked decrease in T-cell priming during bacterial and viral infections. In humans, this gene was found to be amplified in small-cell lung cancers. Alternate splicing of this gene results in multiple variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted null allele are viable, fertile and apparently healthy with no congenital defects or gross morphological/cellular alterations of the CNS, lung, kidney and GI tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,374,933 (GRCm39)		probably benign	Het
Adam15	T	G	3: 89,257,206 (GRCm39)		probably benign	Het
Albfm1	T	C	5: 90,732,716 (GRCm39)	F509S	probably damaging	Het
Atp12a	T	C	14: 56,621,668 (GRCm39)	S768P	probably damaging	Het
Atp8a1	G	A	5: 67,919,887 (GRCm39)	T393I	probably damaging	Het
B4galnt4	T	G	7: 140,650,524 (GRCm39)	I3S	probably damaging	Het
Bfsp1	G	A	2: 143,668,971 (GRCm39)	T536I	probably benign	Het
Brsk1	G	T	7: 4,707,708 (GRCm39)	W284L	probably damaging	Het
Cadm3	A	T	1: 173,164,669 (GRCm39)	D370E	probably damaging	Het
Cadps2	A	G	6: 23,626,667 (GRCm39)	I207T	possibly damaging	Het
Calr4	A	C	4: 109,101,273 (GRCm39)	T52P	probably damaging	Het
Catsperg2	G	A	7: 29,416,491 (GRCm39)	T307M	probably damaging	Het
Ckap5	T	A	2: 91,422,097 (GRCm39)	N1166K	probably null	Het
Clca4a	G	A	3: 144,659,573 (GRCm39)	T761I	probably damaging	Het
Cnksr3	A	T	10: 7,076,633 (GRCm39)		probably null	Het
Diaph3	A	G	14: 86,893,989 (GRCm39)	S7P	probably benign	Het
Dnah7a	G	A	1: 53,518,851 (GRCm39)	P2969S	probably damaging	Het
Dnai2	A	T	11: 114,631,293 (GRCm39)	T221S	probably benign	Het
Dsc2	A	G	18: 20,167,640 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,504,283 (GRCm39)	N789S	probably damaging	Het
Fn1	C	T	1: 71,668,863 (GRCm39)	R694H	probably damaging	Het
Gm5478	G	A	15: 101,552,837 (GRCm39)	R365C	probably damaging	Het
Gm5591	A	T	7: 38,218,338 (GRCm39)	M845K	possibly damaging	Het
Gm5800	A	T	14: 51,951,294 (GRCm39)		probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
H2-Q2	A	T	17: 35,562,155 (GRCm39)	Y134F	probably benign	Het
Hcfc1r1	A	G	17: 23,893,648 (GRCm39)	R76G	possibly damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Herc1	G	T	9: 66,369,091 (GRCm39)	L2928F	probably damaging	Het
Hmx3	C	T	7: 131,145,898 (GRCm39)	A202V	probably benign	Het
Ikzf3	A	T	11: 98,381,406 (GRCm39)	M58K	probably benign	Het
Il20ra	A	G	10: 19,625,107 (GRCm39)	T129A	probably damaging	Het
Il21	T	C	3: 37,281,946 (GRCm39)	H66R	probably benign	Het
Kcnh5	A	T	12: 75,134,190 (GRCm39)	M453K	probably damaging	Het
Kdf1	C	G	4: 133,256,258 (GRCm39)	A325G	probably damaging	Het
Klhl10	C	T	11: 100,338,047 (GRCm39)	A262V	probably benign	Het
Krt81	T	A	15: 101,357,340 (GRCm39)	N464I	probably benign	Het
Ksr1	A	T	11: 78,911,251 (GRCm39)	I698N	probably damaging	Het
Lrp2	A	G	2: 69,379,322 (GRCm39)	V130A	possibly damaging	Het
Mcm2	T	C	6: 88,874,432 (GRCm39)	T25A	probably benign	Het
Mrps18c	T	A	5: 100,950,960 (GRCm39)	Y93*	probably null	Het
Mylk2	C	A	2: 152,755,469 (GRCm39)	A211E	probably benign	Het
Myo5a	G	A	9: 75,059,292 (GRCm39)	D507N	probably damaging	Het
Myo7b	A	G	18: 32,131,787 (GRCm39)	F470L	probably damaging	Het
Oas1a	A	T	5: 121,037,284 (GRCm39)	C248S	probably benign	Het
Or2ag2b	T	C	7: 106,418,015 (GRCm39)	S242P	probably damaging	Het
Or4c15b	C	T	2: 89,112,574 (GRCm39)	W301*	probably null	Het
Or51aa2	T	C	7: 103,188,031 (GRCm39)	I137V	probably benign	Het
Or5b116	A	G	19: 13,422,475 (GRCm39)	Y33C	probably damaging	Het
Or5m9b	T	A	2: 85,905,882 (GRCm39)	V266E	probably benign	Het
Or5p67	A	G	7: 107,922,185 (GRCm39)	S233P	probably damaging	Het
Or8d1	G	A	9: 38,767,101 (GRCm39)	V248M	probably damaging	Het
Otub1	C	A	19: 7,177,357 (GRCm39)	G67C	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr8	A	G	1: 21,004,920 (GRCm39)	I25V	probably benign	Het
Pcdh1	A	G	18: 38,325,252 (GRCm39)	Y897H	probably damaging	Het
Pde4d	T	G	13: 109,397,343 (GRCm39)		probably benign	Het
Pdzd8	C	A	19: 59,289,458 (GRCm39)	K647N	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Praf2	T	C	X: 7,596,641 (GRCm39)		probably benign	Het
Pramel29	A	T	4: 143,939,575 (GRCm39)		probably benign	Het
Psg25	A	T	7: 18,258,711 (GRCm39)	Y322N	possibly damaging	Het
Rxrg	A	G	1: 167,463,335 (GRCm39)	E402G	probably damaging	Het
Selenok	T	A	14: 29,692,022 (GRCm39)	V20E	probably benign	Het
Sipa1	G	A	19: 5,705,786 (GRCm39)	T394I	probably benign	Het
Spag17	A	T	3: 99,969,264 (GRCm39)	N1247I	probably damaging	Het
Spata31d1c	A	G	13: 65,183,718 (GRCm39)	D420G	probably damaging	Het
Syk	A	G	13: 52,795,962 (GRCm39)	K519R	probably benign	Het
Syne2	A	T	12: 75,985,515 (GRCm39)	E1654D	possibly damaging	Het
Tha1	A	C	11: 117,760,502 (GRCm39)	S241A	probably damaging	Het
Thsd7a	T	A	6: 12,379,601 (GRCm39)	E941V	probably damaging	Het
Tjp1	T	C	7: 64,972,797 (GRCm39)	T548A	probably damaging	Het
Tube1	C	A	10: 39,020,552 (GRCm39)	D210E	probably benign	Het
Vmn1r183	T	A	7: 23,754,971 (GRCm39)	I258N	possibly damaging	Het
Vmn1r89	A	T	7: 12,954,140 (GRCm39)	N292I	probably damaging	Het
Vmp1	C	A	11: 86,554,377 (GRCm39)	V79L	probably benign	Het
Zfp182	T	A	X: 20,902,605 (GRCm39)	D125V	possibly damaging	Het
Zfp975	T	G	7: 42,311,654 (GRCm39)	T320P	probably damaging	Het
Znrf1	G	A	8: 112,263,899 (GRCm39)	A43T	probably benign	Het

Other mutations in Mycl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02529:Mycl	APN	4	122,890,770 (GRCm39)	missense	probably damaging	1.00
IGL02678:Mycl	APN	4	122,893,776 (GRCm39)	missense	probably damaging	1.00
R1509:Mycl	UTSW	4	122,894,100 (GRCm39)	missense	probably damaging	1.00
R2348:Mycl	UTSW	4	122,890,745 (GRCm39)	missense	probably benign	0.07
R4050:Mycl	UTSW	4	122,890,632 (GRCm39)	splice site	probably null
R4209:Mycl	UTSW	4	122,893,715 (GRCm39)	missense	possibly damaging	0.57
R4798:Mycl	UTSW	4	122,894,049 (GRCm39)	missense	probably damaging	1.00
R5795:Mycl	UTSW	4	122,890,415 (GRCm39)	missense	probably damaging	1.00
R6195:Mycl	UTSW	4	122,893,713 (GRCm39)	missense	probably damaging	1.00
R6233:Mycl	UTSW	4	122,893,713 (GRCm39)	missense	probably damaging	1.00
R6854:Mycl	UTSW	4	122,894,039 (GRCm39)	missense	probably damaging	1.00
R7050:Mycl	UTSW	4	122,890,813 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAGAACCATAACTTCTTGGAACG -3'
(R):5'- TGCAAGCCCTTATTGTGTGC -3'

Sequencing Primer
(F):5'- CCATAACTTCTTGGAACGAAAAAGG -3'
(R):5'- CGCACACCGGCTGCAATG -3'

Posted On

2016-07-06