Mutagenetix > Incidental Mutation

Incidental Mutation 'R8095:Mab21l2'

630135

Institutional Source

Beutler Lab

Gene Symbol

Mab21l2

Ensembl Gene

ENSMUSG00000057777

Gene Name

mab-21-like 2

Synonyms

MMRRC Submission

067527-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R8095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86453357-86455590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86454769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 77 (V77A)

Ref Sequence

ENSEMBL: ENSMUSP00000076729 (fasta)

Gene Model

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

AlphaFold

Q8BPP1

Predicted Effect

probably benign
Transcript: ENSMUST00000077524
AA Change: V77A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: V77A

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

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

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212390

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,536,196 (GRCm39)	I490M	possibly damaging	Het
Abcc9	T	C	6: 142,590,048 (GRCm39)	I817V	probably benign	Het
Atp11b	T	C	3: 35,888,565 (GRCm39)	L945P	probably damaging	Het
Coa8	C	A	12: 111,689,218 (GRCm39)	A100D	probably damaging	Het
Crem	T	C	18: 3,295,106 (GRCm39)	T108A	probably benign	Het
Cttnbp2	T	A	6: 18,435,432 (GRCm39)	K142M	probably damaging	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dnah14	G	T	1: 181,633,597 (GRCm39)	E11*	probably null	Het
Dpy19l1	T	C	9: 24,396,160 (GRCm39)		probably null	Het
Dym	A	G	18: 75,247,872 (GRCm39)	T259A	possibly damaging	Het
E030018B13Rik	T	G	7: 63,569,049 (GRCm39)	H32Q	unknown	Het
Ehmt2	T	G	17: 35,126,745 (GRCm39)	H809Q	probably damaging	Het
Fabp6	G	A	11: 43,489,543 (GRCm39)	R33C	probably damaging	Het
Fam98a	C	A	17: 75,845,766 (GRCm39)	D327Y	probably damaging	Het
Foxf1	C	T	8: 121,813,551 (GRCm39)	T357I	probably benign	Het
Foxh1	T	A	15: 76,553,208 (GRCm39)	R169*	probably null	Het
Hydin	T	C	8: 111,295,991 (GRCm39)	F3568S	probably damaging	Het
Il22	T	C	10: 118,041,028 (GRCm39)	S45P	possibly damaging	Het
Isyna1	C	A	8: 71,049,035 (GRCm39)	Y371*	probably null	Het
Lingo3	T	C	10: 80,671,255 (GRCm39)	H225R	probably benign	Het
Lmo7	T	A	14: 102,124,855 (GRCm39)	V560E	possibly damaging	Het
Mapkbp1	A	G	2: 119,848,131 (GRCm39)	K595R	probably benign	Het
Mfsd2a	A	T	4: 122,845,064 (GRCm39)	C216S	probably damaging	Het
Muc16	A	T	9: 18,496,126 (GRCm39)	Y6688*	probably null	Het
Or12j5	T	C	7: 140,084,192 (GRCm39)	Y60C	probably damaging	Het
Otud6b	T	C	4: 14,825,614 (GRCm39)	D72G	probably damaging	Het
Pcdhgb6	A	G	18: 37,875,924 (GRCm39)	I211V	probably benign	Het
Ryr3	A	G	2: 112,498,388 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,132,730 (GRCm39)	Y166C	probably damaging	Het
Scn1a	T	A	2: 66,132,809 (GRCm39)	K171N	possibly damaging	Het
Scyl2	G	T	10: 89,476,965 (GRCm39)	T720K	probably damaging	Het
Slc9a8	T	A	2: 167,310,891 (GRCm39)	V384D	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Smg1	T	C	7: 117,772,285 (GRCm39)	Y1490C	unknown	Het
Snx16	A	T	3: 10,503,244 (GRCm39)	M1K	probably null	Het
Sqle	A	G	15: 59,193,276 (GRCm39)	S218G	probably benign	Het
Strip1	A	G	3: 107,525,455 (GRCm39)	I527T	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trf	T	C	9: 103,087,735 (GRCm39)	Y673C	probably damaging	Het
Ttc39b	C	T	4: 83,164,557 (GRCm39)	A252T	probably benign	Het
Tubgcp6	A	T	15: 89,006,977 (GRCm39)	L15H	probably benign	Het
Uspl1	C	T	5: 149,150,992 (GRCm39)	Q731*	probably null	Het
Vmn1r193	T	C	13: 22,403,231 (GRCm39)	R254G	possibly damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp644	A	C	5: 106,766,280 (GRCm39)	V1234G	possibly 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
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
R8736:Mab21l2	UTSW	3	86,454,607 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTACTAGTGTCTGGAAACG -3'
(R):5'- TCAGGCCAAGCTGGTTTACC -3'

Sequencing Primer
(F):5'- TACTAGTGTCTGGAAACGCGAGC -3'
(R):5'- TACTACACCGAGCGCTGC -3'

Posted On

2020-06-30