Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01954:Mab21l4'

181360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mab21l4

Ensembl Gene

ENSMUSG00000034159

Gene Name

mab-21-like 4

Synonyms

2310007B03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01954

Quality Score

Status

Chromosome

Chromosomal Location

93079071-93088670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93079794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 432 (D432V)

Ref Sequence

ENSEMBL: ENSMUSP00000115971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043718] [ENSMUST00000143419]

AlphaFold

Q8CEZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043718
AA Change: D432V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035332
Gene: ENSMUSG00000034159
AA Change: D432V

Domain	Start	End	E-Value	Type
Mab-21	71	372	2.18e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000143419
AA Change: D432V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115971
Gene: ENSMUSG00000034159
AA Change: D432V

Domain	Start	End	E-Value	Type
Mab-21	71	372	2.18e-52	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,741 (GRCm39)	D330E	probably damaging	Het
Acsm3	T	C	7: 119,374,306 (GRCm39)		probably benign	Het
Ankrd26	T	A	6: 118,535,966 (GRCm39)	Y156F	possibly damaging	Het
Bcr	G	A	10: 75,011,173 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,079,138 (GRCm39)	A188T	probably benign	Het
Ctdsp1	T	C	1: 74,433,242 (GRCm39)		probably benign	Het
Cts7	T	A	13: 61,500,637 (GRCm39)	R303S	probably benign	Het
Dock7	T	C	4: 98,971,388 (GRCm39)	D59G	probably damaging	Het
Garre1	A	T	7: 33,944,460 (GRCm39)	W91R	probably damaging	Het
Gpr149	T	C	3: 62,438,348 (GRCm39)	N603S	probably benign	Het
Gucy2g	A	G	19: 55,187,123 (GRCm39)	I1099T	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Ighv1-80	A	T	12: 115,876,253 (GRCm39)	V21D	probably benign	Het
Klhl18	T	C	9: 110,257,934 (GRCm39)	Y432C	probably damaging	Het
Lama4	A	G	10: 38,963,295 (GRCm39)	D1289G	probably benign	Het
Mcm7	T	C	5: 138,165,507 (GRCm39)	T466A	probably damaging	Het
Megf8	A	G	7: 25,048,439 (GRCm39)	E1704G	possibly damaging	Het
Mettl25	C	T	10: 105,659,068 (GRCm39)	C405Y	probably damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Ndc1	T	A	4: 107,253,001 (GRCm39)	I590N	probably damaging	Het
Npnt	G	T	3: 132,615,724 (GRCm39)	N137K	probably damaging	Het
Numa1	C	T	7: 101,645,300 (GRCm39)	R309*	probably null	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or11i1	A	G	3: 106,729,311 (GRCm39)	I188T	possibly damaging	Het
Or5v1	C	A	17: 37,809,540 (GRCm39)		probably benign	Het
Pcdhb9	G	T	18: 37,534,794 (GRCm39)	V263F	probably damaging	Het
Pld4	T	C	12: 112,734,355 (GRCm39)		probably null	Het
Ppp2r3c	A	G	12: 55,339,353 (GRCm39)	L170P	probably damaging	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Rasal2	A	G	1: 157,005,269 (GRCm39)	S227P	possibly damaging	Het
Rasal2	A	T	1: 157,003,686 (GRCm39)	D324E	probably damaging	Het
Rcbtb1	A	G	14: 59,467,416 (GRCm39)	Y418C	probably damaging	Het
Rhag	T	C	17: 41,139,341 (GRCm39)	F92S	possibly damaging	Het
Scel	T	C	14: 103,840,678 (GRCm39)		probably benign	Het
Serinc5	A	G	13: 92,819,441 (GRCm39)	N125S	probably damaging	Het
Sgpl1	A	T	10: 60,936,672 (GRCm39)	M561K	probably benign	Het
Sostdc1	T	C	12: 36,367,121 (GRCm39)	V99A	probably damaging	Het
Them6	A	G	15: 74,593,538 (GRCm39)	Y132C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	A	T	6: 124,169,207 (GRCm39)	F641Y	probably damaging	Het
Vps13c	A	G	9: 67,876,580 (GRCm39)	Y3384C	probably damaging	Het
Zbtb32	G	T	7: 30,289,353 (GRCm39)		probably null	Het

Other mutations in Mab21l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0018:Mab21l4	UTSW	1	93,082,327 (GRCm39)	missense	probably benign	0.00
R0115:Mab21l4	UTSW	1	93,087,447 (GRCm39)	missense	possibly damaging	0.70
R0467:Mab21l4	UTSW	1	93,080,766 (GRCm39)	missense	probably damaging	1.00
R1452:Mab21l4	UTSW	1	93,080,661 (GRCm39)	missense	probably damaging	1.00
R1938:Mab21l4	UTSW	1	93,079,730 (GRCm39)	makesense	probably null
R3156:Mab21l4	UTSW	1	93,087,764 (GRCm39)	missense	possibly damaging	0.95
R4740:Mab21l4	UTSW	1	93,083,890 (GRCm39)	missense	probably benign	0.01
R5260:Mab21l4	UTSW	1	93,087,700 (GRCm39)	missense	probably damaging	0.99
R5283:Mab21l4	UTSW	1	93,087,575 (GRCm39)	missense	probably benign	0.02
R5645:Mab21l4	UTSW	1	93,080,668 (GRCm39)	missense	probably damaging	1.00
R6380:Mab21l4	UTSW	1	93,088,613 (GRCm39)	splice site	probably null
R6738:Mab21l4	UTSW	1	93,087,707 (GRCm39)	missense	probably benign	0.30
R7184:Mab21l4	UTSW	1	93,082,237 (GRCm39)	missense	probably benign	0.00
R7227:Mab21l4	UTSW	1	93,079,736 (GRCm39)	missense	probably benign	0.00
R7562:Mab21l4	UTSW	1	93,087,689 (GRCm39)	missense	probably damaging	1.00
R8001:Mab21l4	UTSW	1	93,082,321 (GRCm39)	missense	probably damaging	1.00
R8735:Mab21l4	UTSW	1	93,082,208 (GRCm39)	critical splice donor site	probably null
R8970:Mab21l4	UTSW	1	93,087,533 (GRCm39)	missense	probably benign	0.00
R9418:Mab21l4	UTSW	1	93,087,710 (GRCm39)	missense	probably benign	0.45
R9537:Mab21l4	UTSW	1	93,080,884 (GRCm39)	missense	possibly damaging	0.56
R9599:Mab21l4	UTSW	1	93,087,568 (GRCm39)	missense	possibly damaging	0.73
R9736:Mab21l4	UTSW	1	93,087,661 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07