Mutagenetix > Incidental Mutation

Incidental Mutation 'R5878:Mab21l2'

455643

Institutional Source

Beutler Lab

Gene Symbol

Mab21l2

Ensembl Gene

ENSMUSG00000057777

Gene Name

mab-21-like 2

Synonyms

MMRRC Submission

044084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R5878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86453357-86455590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86454025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 325 (D325V)

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: D325V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076729
Gene: ENSMUSG00000057777
AA Change: D325V

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

0.9463

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

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
Abca12	A	T	1: 71,385,792 (GRCm39)	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286 (GRCm38)	V6I	probably benign	Het
Afap1l2	T	C	19: 56,904,107 (GRCm39)	T727A	probably benign	Het
Aggf1	T	C	13: 95,506,065 (GRCm39)	E174G	probably benign	Het
Ahnak	T	G	19: 8,985,706 (GRCm39)	L2330R	probably damaging	Het
Arb2a	T	A	13: 78,100,186 (GRCm39)	V129E	probably damaging	Het
Arfgef2	A	G	2: 166,712,137 (GRCm39)	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,233,827 (GRCm39)	L217P	probably benign	Het
Cfap54	T	C	10: 92,800,423 (GRCm39)	D1595G	probably benign	Het
Cps1	G	T	1: 67,197,037 (GRCm39)		probably null	Het
Fam120b	A	G	17: 15,622,502 (GRCm39)	D160G	probably damaging	Het
Fezf1	C	A	6: 23,247,580 (GRCm39)	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,225,145 (GRCm39)	L838H	probably benign	Het
Frmd3	G	A	4: 74,071,847 (GRCm39)	G243D	probably damaging	Het
Gldc	A	T	19: 30,120,867 (GRCm39)		probably null	Het
Gm10188	T	C	1: 132,156,940 (GRCm39)		probably benign	Het
Gm5190	T	A	12: 113,360,859 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,208,628 (GRCm39)		probably null	Het
Hdhd5	A	G	6: 120,491,485 (GRCm39)	L206P	probably damaging	Het
Herc2	A	G	7: 55,773,996 (GRCm39)	N1149S	probably benign	Het
Inca1	G	A	11: 70,586,808 (GRCm39)		probably benign	Het
Iqch	G	A	9: 63,455,272 (GRCm39)	S175F	probably damaging	Het
Itpr3	T	G	17: 27,329,836 (GRCm39)	D1543E	probably benign	Het
Khk	T	A	5: 31,088,219 (GRCm39)		probably null	Het
Kiz	C	T	2: 146,731,521 (GRCm39)	S337L	probably damaging	Het
Lzts3	G	A	2: 130,478,459 (GRCm39)	T213I	probably damaging	Het
Mctp2	A	G	7: 71,863,856 (GRCm39)	S336P	probably benign	Het
Me3	T	A	7: 89,497,214 (GRCm39)	L405Q	probably benign	Het
Mgst2	A	T	3: 51,568,651 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,083,330 (GRCm39)	E1431G	probably damaging	Het
Naip6	A	G	13: 100,436,181 (GRCm39)	S781P	probably damaging	Het
Nr3c2	A	G	8: 77,634,897 (GRCm39)		probably null	Het
Or10ab5	A	T	7: 108,244,946 (GRCm39)	L279Q	probably damaging	Het
Or6s1	A	G	14: 51,308,449 (GRCm39)	Y134H	probably damaging	Het
Or6x1	C	T	9: 40,098,867 (GRCm39)	T152I	probably benign	Het
Otop1	G	T	5: 38,435,166 (GRCm39)	R132L	possibly damaging	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,820,739 (GRCm39)	G763W	probably benign	Het
Pde10a	A	G	17: 9,168,204 (GRCm39)	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,089,080 (GRCm39)	I147T	probably benign	Het
Polh	T	A	17: 46,505,251 (GRCm39)	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,624,984 (GRCm39)	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,705,748 (GRCm39)	C132F	probably damaging	Het
Rbm19	T	A	5: 120,270,932 (GRCm39)	V585E	probably damaging	Het
Relch	T	A	1: 105,620,685 (GRCm39)	S387T	probably benign	Het
Rp1l1	C	T	14: 64,266,355 (GRCm39)	P647L	probably benign	Het
Rrp1b	A	G	17: 32,266,649 (GRCm39)	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,798,742 (GRCm39)	H392Q	probably benign	Het
Skic2	C	T	17: 35,065,093 (GRCm39)	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,144,217 (GRCm39)	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,904,122 (GRCm39)	E5V	probably benign	Het
Slc38a2	A	G	15: 96,590,465 (GRCm39)	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,391,561 (GRCm39)		probably benign	Het
Sri	G	C	5: 8,109,353 (GRCm39)	D46H	probably damaging	Het
Tango6	A	G	8: 107,415,800 (GRCm39)	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,501,749 (GRCm39)	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,172 (GRCm39)	D194G	probably benign	Het
Trank1	T	C	9: 111,195,753 (GRCm39)	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,386,255 (GRCm39)	D70G	probably benign	Het
Trim52	T	A	14: 106,344,375 (GRCm39)	M11K	probably damaging	Het
Wdr62	A	G	7: 29,940,772 (GRCm39)	M882T	probably benign	Het
Ybx3	A	G	6: 131,344,726 (GRCm39)		probably null	Het
Zfand2b	A	G	1: 75,147,154 (GRCm39)		probably benign	Het
Zfp91	T	A	19: 12,747,684 (GRCm39)	T480S	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
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'- AATTAGGATGTCTTCTGCCTACTCC -3'
(R):5'- GAAACAAGTGCCTCTCGGTG -3'

Sequencing Primer
(F):5'- ACTCCCGTTCTTTCAGGTGATTTAC -3'
(R):5'- AAGTGCCTCTCGGTGCTGAAG -3'

Posted On

2017-02-10