Mutagenetix > Incidental Mutations

Incidental Mutation 'R1268:Mab21l3'

151206

Institutional Source

Beutler Lab

Gene Symbol

Mab21l3

Ensembl Gene

ENSMUSG00000044313

Gene Name

mab-21-like 3 (C. elegans)

Synonyms

BC037703

MMRRC Submission

039335-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101813076-101848959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101835047 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 66 (E66K)

Ref Sequence

ENSEMBL: ENSMUSP00000112730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061831] [ENSMUST00000118411]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061831
AA Change: E66K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: E66K

Domain	Start	End	E-Value	Type
Mab-21	124	422	3.17e-104	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118411
AA Change: E66K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: E66K

Domain	Start	End	E-Value	Type
Mab-21	124	422	3.17e-104	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 13,887,986	V1257A	probably damaging	Het
Aplnr	A	G	2: 85,137,431	T267A	possibly damaging	Het
Arap2	A	G	5: 62,730,621	S461P	probably benign	Het
Brpf3	A	G	17: 28,836,556	T1160A	probably damaging	Het
Col5a1	A	T	2: 28,002,489	T1005S	unknown	Het
Crebrf	CTTTT	CTTT	17: 26,739,596		probably null	Het
Fmo6	A	T	1: 162,920,517	I326N	probably damaging	Het
Foxp4	G	C	17: 47,880,353		probably benign	Het
Gnat1	A	G	9: 107,675,877		probably benign	Het
Hs6st1	T	A	1: 36,068,926	V90D	probably damaging	Het
Igsf11	A	G	16: 39,024,854	T257A	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mybl2	A	G	2: 163,074,716	N429S	probably benign	Het
Mycbp2	G	A	14: 103,208,782	T1837I	probably damaging	Het
Myh7b	C	A	2: 155,614,046	S117*	probably null	Het
Nek1	C	A	8: 61,022,264	A202E	probably damaging	Het
Notum	C	T	11: 120,658,667	W159*	probably null	Het
Ntn1	TCCTCGGC	TC	11: 68,213,133		probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1308	G	T	2: 111,960,877	N65K	possibly damaging	Het
Olfr1364	C	T	13: 21,574,328	V43M	probably benign	Het
Olfr1451	T	C	19: 12,999,261	Y92H	possibly damaging	Het
Olfr48	A	G	2: 89,844,154	I273T	probably damaging	Het
Olfr494	A	T	7: 108,367,795	I102F	probably benign	Het
Olfr834	T	C	9: 18,988,356	F123L	probably damaging	Het
Plk4	T	A	3: 40,811,369	V659D	probably damaging	Het
Rbm27	T	C	18: 42,333,302	S866P	probably damaging	Het
Rnaseh2b	A	T	14: 62,372,455	K303N	possibly damaging	Het
Samd9l	C	T	6: 3,376,113	V383I	possibly damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Slc35f2	T	A	9: 53,797,913	Y62*	probably null	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Ulk1	A	G	5: 110,790,277	S610P	probably damaging	Het
Ulk4	C	A	9: 121,257,074		probably benign	Het
Vdr	T	C	15: 97,857,475	N389S	probably benign	Het

Other mutations in Mab21l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mab21l3	APN	3	101823455	missense	probably damaging	0.99
IGL01123:Mab21l3	APN	3	101835130	missense	probably benign	0.06
IGL01997:Mab21l3	APN	3	101818639	missense	probably damaging	0.99
IGL02423:Mab21l3	APN	3	101818729	missense	probably damaging	1.00
IGL02546:Mab21l3	APN	3	101823308	missense	probably damaging	1.00
R1803:Mab21l3	UTSW	3	101835130	missense	probably benign	0.06
R2056:Mab21l3	UTSW	3	101815153	missense	possibly damaging	0.55
R2104:Mab21l3	UTSW	3	101823428	missense	probably benign	0.31
R3107:Mab21l3	UTSW	3	101826796	missense	probably damaging	1.00
R3405:Mab21l3	UTSW	3	101823531	missense	probably damaging	1.00
R3406:Mab21l3	UTSW	3	101823531	missense	probably damaging	1.00
R5715:Mab21l3	UTSW	3	101823407	missense	probably benign	0.36
R6612:Mab21l3	UTSW	3	101818645	missense	possibly damaging	0.55
R7183:Mab21l3	UTSW	3	101815153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGAGAACGAGGCATCTATGGC -3'
(R):5'- CCAGGCGGCTTGTTTGCAATTTC -3'

Sequencing Primer
(F):5'- GCATCTATGGCCTCCAGAAG -3'
(R):5'- TCTACAGTTCCCTGAAAGATGGC -3'

Posted On

2014-01-29