Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02143:Mab21l2'

281663

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mab21l2

Ensembl Gene

ENSMUSG00000057777

Gene Name

mab-21-like 2

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

86453357-86455590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86454562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 146 (R146Q)

Ref Sequence

ENSEMBL: ENSMUSP00000076729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077524] [ENSMUST00000107635] [ENSMUST00000192145] [ENSMUST00000194759] [ENSMUST00000212390] [ENSMUST00000195524]

AlphaFold

Q8BPP1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077524
AA Change: R146Q

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: R146Q

Domain	Start	End	E-Value	Type
Mab-21	61	347	1.61e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107635

SMART Domains

Protein: ENSMUSP00000103261
Gene: ENSMUSG00000028080

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Pfam:Laminin_G_3	211	377	4.6e-13	PFAM
Pfam:DUF4704	446	717	2.5e-109	PFAM
coiled coil region	1019	1037	N/A	INTRINSIC
low complexity region	1073	1089	N/A	INTRINSIC
low complexity region	1100	1113	N/A	INTRINSIC
low complexity region	1585	1600	N/A	INTRINSIC
low complexity region	1614	1630	N/A	INTRINSIC
low complexity region	1698	1713	N/A	INTRINSIC
low complexity region	1738	1757	N/A	INTRINSIC
low complexity region	1848	1861	N/A	INTRINSIC
Pfam:DUF1088	1882	2049	7e-88	PFAM
Pfam:PH_BEACH	2075	2172	9.1e-31	PFAM
Beach	2203	2480	2.87e-207	SMART
WD40	2578	2615	7.4e0	SMART
WD40	2618	2661	1.72e0	SMART
WD40	2677	2716	3.99e-1	SMART
WD40	2760	2798	1.79e-1	SMART
WD40	2801	2840	4.28e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191695

Predicted Effect

probably benign
Transcript: ENSMUST00000192145

SMART Domains

Protein: ENSMUSP00000142179
Gene: ENSMUSG00000028080

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Pfam:Laminin_G_3	205	377	7.4e-18	PFAM
coiled coil region	1019	1037	N/A	INTRINSIC
low complexity region	1073	1089	N/A	INTRINSIC
low complexity region	1100	1113	N/A	INTRINSIC
low complexity region	1585	1600	N/A	INTRINSIC
low complexity region	1614	1630	N/A	INTRINSIC
low complexity region	1698	1713	N/A	INTRINSIC
low complexity region	1738	1757	N/A	INTRINSIC
low complexity region	1848	1861	N/A	INTRINSIC
Pfam:DUF1088	1882	2050	1.5e-92	PFAM
Pfam:PH_BEACH	2068	2172	7.5e-32	PFAM
Beach	2203	2480	2.87e-207	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194674

Predicted Effect

probably benign
Transcript: ENSMUST00000194759

SMART Domains

Protein: ENSMUSP00000142043
Gene: ENSMUSG00000028080

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
Pfam:Laminin_G_3	205	377	8.1e-18	PFAM
coiled coil region	1019	1037	N/A	INTRINSIC
low complexity region	1073	1089	N/A	INTRINSIC
low complexity region	1100	1113	N/A	INTRINSIC
low complexity region	1585	1600	N/A	INTRINSIC
low complexity region	1614	1630	N/A	INTRINSIC
low complexity region	1698	1713	N/A	INTRINSIC
low complexity region	1738	1757	N/A	INTRINSIC
low complexity region	1848	1861	N/A	INTRINSIC
Pfam:DUF1088	1882	2050	1.6e-92	PFAM
Pfam:PH_BEACH	2068	2172	8.3e-32	PFAM
Beach	2203	2480	2.87e-207	SMART
WD40	2578	2615	7.4e0	SMART
WD40	2618	2661	1.72e0	SMART
WD40	2677	2716	3.99e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195398

Predicted Effect

probably benign
Transcript: ENSMUST00000212390

Predicted Effect

probably benign
Transcript: ENSMUST00000195524

SMART Domains

Protein: ENSMUSP00000141734
Gene: ENSMUSG00000028080

Domain	Start	End	E-Value	Type
Pfam:PH_BEACH	3	76	3.6e-20	PFAM
Beach	107	384	2.87e-207	SMART
WD40	482	519	7.4e0	SMART
WD40	522	565	1.72e0	SMART
WD40	581	620	3.99e-1	SMART
WD40	664	702	1.79e-1	SMART
WD40	705	744	4.28e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in omphalocele and defects in ventral body wall formation resulting in death at mid-gestation. Mutants have impaired development of the retina and lens. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Ager	G	A	17: 34,818,092 (GRCm39)	G183E	probably damaging	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Amot	T	A	X: 144,270,024 (GRCm39)	Q204H	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Ppfia2	G	A	10: 106,693,360 (GRCm39)	D622N	probably damaging	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Vps45	A	T	3: 95,941,133 (GRCm39)	N369K	probably benign	Het
Vps45	T	C	3: 95,926,958 (GRCm39)	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Mab21l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Mab21l2	APN	3	86,454,124 (GRCm39)	missense	possibly damaging	0.67
IGL02570:Mab21l2	APN	3	86,454,531 (GRCm39)	missense	possibly damaging	0.79
R0401:Mab21l2	UTSW	3	86,454,296 (GRCm39)	missense	probably benign	0.00
R1744:Mab21l2	UTSW	3	86,454,211 (GRCm39)	missense	possibly damaging	0.58
R2088:Mab21l2	UTSW	3	86,454,316 (GRCm39)	missense	probably damaging	1.00
R2504:Mab21l2	UTSW	3	86,454,862 (GRCm39)	missense	probably damaging	1.00
R3825:Mab21l2	UTSW	3	86,454,211 (GRCm39)	missense	possibly damaging	0.58
R4361:Mab21l2	UTSW	3	86,454,497 (GRCm39)	missense	probably damaging	1.00
R4664:Mab21l2	UTSW	3	86,454,811 (GRCm39)	missense	probably benign
R5245:Mab21l2	UTSW	3	86,454,799 (GRCm39)	missense	possibly damaging	0.52
R5791:Mab21l2	UTSW	3	86,454,044 (GRCm39)	missense	probably damaging	1.00
R5878:Mab21l2	UTSW	3	86,454,025 (GRCm39)	missense	probably damaging	1.00
R6187:Mab21l2	UTSW	3	86,454,565 (GRCm39)	missense	probably damaging	1.00
R6880:Mab21l2	UTSW	3	86,454,463 (GRCm39)	missense	possibly damaging	0.71
R7021:Mab21l2	UTSW	3	86,454,793 (GRCm39)	missense	probably benign	0.01
R8085:Mab21l2	UTSW	3	86,455,393 (GRCm39)	unclassified	probably benign
R8095:Mab21l2	UTSW	3	86,454,769 (GRCm39)	missense	probably benign	0.03
R8736:Mab21l2	UTSW	3	86,454,607 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16