Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Mab21l3'

50768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mab21l3

Ensembl Gene

ENSMUSG00000044313

Gene Name

mab-21-like 3 (C. elegans)

Synonyms

BC037703

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

101813076-101848959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101835130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 38 (T38M)

Ref Sequence

ENSEMBL: ENSMUSP00000112730 (fasta)

Gene Model

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

AlphaFold

Q8CI17

Predicted Effect

probably benign
Transcript: ENSMUST00000061831
AA Change: T38M

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: T38M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118411
AA Change: T38M

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: T38M

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	T	10: 28,973,938	D167E	probably damaging	Het
Aadat	A	T	8: 60,526,614	E170V	probably benign	Het
Acsf2	T	C	11: 94,570,450	E300G	probably benign	Het
Agbl3	C	T	6: 34,846,976	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,834,773		probably benign	Het
Arhgef40	C	A	14: 51,994,346	Q730K	probably damaging	Het
Armc3	C	T	2: 19,201,805	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,836,490	T233S	probably benign	Het
Bnc1	G	A	7: 81,973,707	Q591*	probably null	Het
Bsn	A	T	9: 108,115,986	F856I	probably damaging	Het
CK137956	T	A	4: 127,935,850	T558S	probably benign	Het
Coq8b	G	A	7: 27,240,084	V180I	probably damaging	Het
Csmd1	A	T	8: 17,534,928	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,419,088	S769P	possibly damaging	Het
Diras1	T	A	10: 81,022,415	M1L	probably damaging	Het
Fam161b	A	G	12: 84,357,664	W81R	probably benign	Het
Fat4	A	T	3: 38,957,269	I2173L	probably benign	Het
Fbn2	T	C	18: 58,104,081	T617A	possibly damaging	Het
Gabrq	G	A	X: 72,836,833	D311N	probably benign	Het
Isl2	G	T	9: 55,545,462	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,428,612	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,837,148	M5378V	unknown	Het
Lrrc23	G	T	6: 124,778,819	D75E	probably benign	Het
Matn1	T	C	4: 130,950,011	I177T	possibly damaging	Het
Mtor	T	C	4: 148,453,037	S60P	probably benign	Het
Naip6	T	C	13: 100,304,438	E278G	probably benign	Het
Nsun6	T	C	2: 15,048,978	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,668,147	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627	Q188*	probably null	Het
Pom121	A	T	5: 135,391,706	V287D	unknown	Het
Ptprq	A	T	10: 107,686,218	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,188,317	T178A	probably benign	Het
Pygm	A	G	19: 6,391,394	N473S	probably benign	Het
Ros1	A	T	10: 52,120,809	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,941,328	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,694,006	S6P	possibly damaging	Het
Sgca	T	A	11: 94,972,287	Q80L	probably damaging	Het
Skint6	A	G	4: 112,804,682	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 132,056,816	N600K	probably benign	Het
Spata20	T	C	11: 94,483,395	T350A	probably benign	Het
Syne1	G	T	10: 5,344,921	Y1227*	probably null	Het
Unc13c	T	C	9: 73,933,197	Y124C	probably benign	Het
Usp40	G	A	1: 87,986,123	T416I	probably benign	Het
Vmn1r200	T	C	13: 22,395,401	W116R	probably benign	Het
Vps4a	T	C	8: 107,039,219		probably benign	Het
Zfyve16	A	G	13: 92,492,522	V1469A	probably damaging	Het

Other mutations in Mab21l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mab21l3	APN	3	101,823,455 (GRCm38)	missense	probably damaging	0.99
IGL01997:Mab21l3	APN	3	101,818,639 (GRCm38)	missense	probably damaging	0.99
IGL02423:Mab21l3	APN	3	101,818,729 (GRCm38)	missense	probably damaging	1.00
IGL02546:Mab21l3	APN	3	101,823,308 (GRCm38)	missense	probably damaging	1.00
R1268:Mab21l3	UTSW	3	101,835,047 (GRCm38)	missense	possibly damaging	0.88
R1803:Mab21l3	UTSW	3	101,835,130 (GRCm38)	missense	probably benign	0.06
R2056:Mab21l3	UTSW	3	101,815,153 (GRCm38)	missense	possibly damaging	0.55
R2104:Mab21l3	UTSW	3	101,823,428 (GRCm38)	missense	probably benign	0.31
R3107:Mab21l3	UTSW	3	101,826,796 (GRCm38)	missense	probably damaging	1.00
R3405:Mab21l3	UTSW	3	101,823,531 (GRCm38)	missense	probably damaging	1.00
R3406:Mab21l3	UTSW	3	101,823,531 (GRCm38)	missense	probably damaging	1.00
R5715:Mab21l3	UTSW	3	101,823,407 (GRCm38)	missense	probably benign	0.36
R6612:Mab21l3	UTSW	3	101,818,645 (GRCm38)	missense	possibly damaging	0.55
R7183:Mab21l3	UTSW	3	101,815,153 (GRCm38)	missense	probably damaging	1.00
R8933:Mab21l3	UTSW	3	101,823,458 (GRCm38)	missense	probably benign
R9187:Mab21l3	UTSW	3	101,823,278 (GRCm38)	missense	probably benign	0.00
R9342:Mab21l3	UTSW	3	101,835,203 (GRCm38)	missense	possibly damaging	0.92
R9478:Mab21l3	UTSW	3	101,818,671 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-06-21