Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Mab21l2'

231569

Institutional Source

Beutler Lab

Gene Symbol

Mab21l2

Ensembl Gene

ENSMUSG00000057777

Gene Name

mab-21-like 2

Synonyms

MMRRC Submission

040093-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86453357-86455590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86454316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 228 (D228A)

Ref Sequence

ENSEMBL: ENSMUSP00000076729 (fasta)

Gene Model

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

AlphaFold

Q8BPP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000077524
AA Change: D228A

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

SMART Domains

Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: D228A

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

Meta Mutation Damage Score

0.6453

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Eif2d	T	C	1: 131,092,464 (GRCm39)	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Or4f4b	G	T	2: 111,314,623 (GRCm39)	A283S	probably damaging	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,538,121 (GRCm39)	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,719,744 (GRCm39)		probably benign	Het
Uhrf1	A	T	17: 56,625,089 (GRCm39)	K544M	probably damaging	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	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
IGL02143:Mab21l2	APN	3	86,454,562 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTCTCGCACTCGTACAGCAG -3'
(R):5'- GATGATCGCCGACACTAGTG -3'

Sequencing Primer
(F):5'- GCAGCAGCGTCTTCATGTG -3'
(R):5'- GCTACGTGGTGCAAATCAC -3'

Posted On

2014-09-18