Mutagenetix > Incidental Mutation

Incidental Mutation 'R5118:Mul1'

392730

Institutional Source

Beutler Lab

Gene Symbol

Mul1

Ensembl Gene

ENSMUSG00000041241

Gene Name

mitochondrial ubiquitin ligase activator of NFKB 1

Synonyms

0610009K11Rik

MMRRC Submission

042706-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5118 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

138161982-138169576 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138166660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 238 (L238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044058] [ENSMUST00000105813] [ENSMUST00000105815]

AlphaFold

Q8VCM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000044058
AA Change: L243Q

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

SMART Domains

Protein: ENSMUSP00000039604
Gene: ENSMUSG00000041241
AA Change: L243Q

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
Pfam:GIDE	96	256	7.6e-24	PFAM
low complexity region	264	287	N/A	INTRINSIC
RING	302	339	9.03e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105813
AA Change: L238Q

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

SMART Domains

Protein: ENSMUSP00000101439
Gene: ENSMUSG00000041241
AA Change: L238Q

Domain	Start	End	E-Value	Type
Pfam:GIDE	91	252	1e-26	PFAM
low complexity region	259	282	N/A	INTRINSIC
RING	297	334	9.03e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105815

SMART Domains

Protein: ENSMUSP00000101441
Gene: ENSMUSG00000041241

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC

Meta Mutation Damage Score

0.6758

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Adamts2	A	G	11: 50,672,696 (GRCm39)	E648G	probably damaging	Het
Ankrd55	A	G	13: 112,492,473 (GRCm39)	S187G	probably benign	Het
Cd44	C	A	2: 102,695,715 (GRCm39)	E52D	probably damaging	Het
Col6a5	T	A	9: 105,814,204 (GRCm39)	I603F	unknown	Het
Dmxl2	C	A	9: 54,368,271 (GRCm39)	R233L	probably damaging	Het
Dop1a	T	C	9: 86,388,312 (GRCm39)	F429L	probably damaging	Het
Epsti1	T	G	14: 78,224,122 (GRCm39)		probably null	Het
Erfe	G	T	1: 91,298,438 (GRCm39)		probably null	Het
Galnt5	A	G	2: 57,905,015 (GRCm39)	D526G	probably damaging	Het
Gatd1	A	T	7: 140,986,719 (GRCm39)		probably benign	Het
Gm1330	T	C	2: 148,844,906 (GRCm39)		probably benign	Het
Gm6181	G	A	7: 52,405,364 (GRCm39)		noncoding transcript	Het
Irak2	T	A	6: 113,642,772 (GRCm39)	V68D	probably benign	Het
Kdm1a	A	G	4: 136,284,669 (GRCm39)		probably benign	Het
Kidins220	C	A	12: 25,042,296 (GRCm39)	Q198K	probably damaging	Het
Lgr5	A	G	10: 115,288,244 (GRCm39)	V728A	possibly damaging	Het
Micall2	G	A	5: 139,702,202 (GRCm39)	T347M	probably damaging	Het
Mrap2	T	C	9: 87,064,756 (GRCm39)	F166L	possibly damaging	Het
Msh3	A	T	13: 92,445,942 (GRCm39)		probably benign	Het
Nuak1	G	T	10: 84,210,848 (GRCm39)	H413Q	probably benign	Het
Or10j27	T	C	1: 172,958,484 (GRCm39)	Q100R	possibly damaging	Het
Pcnt	C	T	10: 76,248,002 (GRCm39)	A931T	probably damaging	Het
Pramel20	T	C	4: 143,297,697 (GRCm39)	L39P	probably damaging	Het
Pramel34	T	A	5: 93,785,656 (GRCm39)	D208V	probably benign	Het
Psmb4	T	C	3: 94,792,253 (GRCm39)	Y223C	probably damaging	Het
Rbm15b	G	T	9: 106,763,301 (GRCm39)	A289E	possibly damaging	Het
Reg3b	T	A	6: 78,349,111 (GRCm39)	V79E	probably damaging	Het
Rsl1	A	G	13: 67,330,045 (GRCm39)	I164M	probably damaging	Het
Rtp1	T	C	16: 23,250,285 (GRCm39)	F217L	probably benign	Het
Sfmbt1	T	C	14: 30,512,727 (GRCm39)	L360P	probably damaging	Het
Sorbs2	T	C	8: 46,248,822 (GRCm39)	V611A	probably damaging	Het
Tenm4	T	A	7: 96,542,293 (GRCm39)	D1935E	probably damaging	Het
Tep1	T	C	14: 51,093,044 (GRCm39)		probably null	Het
Tmppe	T	G	9: 114,234,549 (GRCm39)	S283A	probably benign	Het
Tmtc1	A	G	6: 148,171,485 (GRCm39)		probably benign	Het
Trp63	T	C	16: 25,707,760 (GRCm39)	I552T	unknown	Het
Tspan2	C	A	3: 102,657,151 (GRCm39)	D45E	probably benign	Het
Tut4	T	A	4: 108,377,489 (GRCm39)	D966E	possibly damaging	Het
Ubr1	T	C	2: 120,712,745 (GRCm39)	E1396G	probably benign	Het
Usp17lc	A	T	7: 103,067,868 (GRCm39)	T388S	probably benign	Het
Wdr46	T	C	17: 34,167,811 (GRCm39)	V508A	possibly damaging	Het
Zfp462	T	A	4: 55,010,667 (GRCm39)	Y878N	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp954	T	A	7: 7,118,714 (GRCm39)	T277S	probably benign	Het

Other mutations in Mul1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Mul1	APN	4	138,165,628 (GRCm39)	nonsense	probably null
IGL01805:Mul1	APN	4	138,166,974 (GRCm39)	missense	possibly damaging	0.70
IGL02859:Mul1	APN	4	138,165,660 (GRCm39)	missense	probably damaging	1.00
R0129:Mul1	UTSW	4	138,165,032 (GRCm39)	splice site	probably benign
R4538:Mul1	UTSW	4	138,165,706 (GRCm39)	intron	probably benign
R4573:Mul1	UTSW	4	138,163,660 (GRCm39)	missense	probably benign
R5593:Mul1	UTSW	4	138,166,543 (GRCm39)	missense	probably damaging	1.00
R7764:Mul1	UTSW	4	138,162,080 (GRCm39)	missense	possibly damaging	0.51
R8891:Mul1	UTSW	4	138,162,164 (GRCm39)	missense	probably benign	0.10
R9082:Mul1	UTSW	4	138,166,945 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTACATCAGTGGCGAGAGG -3'
(R):5'- ACTTGAAGTTGCTCAGACACAC -3'

Sequencing Primer
(F):5'- CCAAAGGCATCCAGGAGACAG -3'
(R):5'- AACACAGGCGCTCTTCAG -3'

Posted On

2016-06-15