Mutagenetix > Incidental Mutation

Incidental Mutation 'R7878:Mab21l1'

608558

Institutional Source

Beutler Lab

Gene Symbol

Mab21l1

Ensembl Gene

ENSMUSG00000056947

Gene Name

mab-21-like 1

Synonyms

MMRRC Submission

045930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7878 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55689931-55692422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55691438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 342 (T342S)

Ref Sequence

ENSEMBL: ENSMUSP00000074878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029374] [ENSMUST00000075422]

AlphaFold

O70299

Predicted Effect

probably benign
Transcript: ENSMUST00000029374

SMART Domains

Protein: ENSMUSP00000029374
Gene: ENSMUSG00000027799

Domain	Start	End	E-Value	Type
low complexity region	19	40	N/A	INTRINSIC
Pfam:Laminin_G_3	228	393	2.8e-13	PFAM
Pfam:DUF4704	462	733	4e-113	PFAM
low complexity region	792	802	N/A	INTRINSIC
low complexity region	964	969	N/A	INTRINSIC
low complexity region	1781	1790	N/A	INTRINSIC
low complexity region	1791	1807	N/A	INTRINSIC
low complexity region	1835	1845	N/A	INTRINSIC
Pfam:DUF1088	1956	2122	3.5e-91	PFAM
Pfam:PH_BEACH	2148	2245	2.6e-32	PFAM
Beach	2276	2553	1.3e-205	SMART
WD40	2659	2696	2.12e2	SMART
WD40	2699	2742	2.22e0	SMART
WD40	2759	2798	9.21e0	SMART
WD40	2842	2880	2.88e-1	SMART
WD40	2883	2922	8.91e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075422
AA Change: T342S

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: T342S

Domain	Start	End	E-Value	Type
Mab-21	61	347	3.59e-94	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene results in male infertility and eye developmental anomalies. Mutant eyes are small, absent of lens and iris, and display malformations of the retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,857,330 (GRCm39)		probably null	Het
Ak7	T	A	12: 105,733,008 (GRCm39)	I584N	probably damaging	Het
Akip1	A	T	7: 109,306,609 (GRCm39)	Y102F	probably damaging	Het
Alg9	T	C	9: 50,754,083 (GRCm39)	Y588H	probably benign	Het
Arid1a	A	T	4: 133,414,582 (GRCm39)	N831K	unknown	Het
Bcl2l11	T	A	2: 127,970,608 (GRCm39)	L19*	probably null	Het
Btn1a1	T	C	13: 23,643,214 (GRCm39)	T412A	possibly damaging	Het
Ccbe1	T	C	18: 66,209,462 (GRCm39)	N193D	possibly damaging	Het
Ccdc168	T	C	1: 44,095,174 (GRCm39)	S1975G	probably benign	Het
Cd96	A	G	16: 45,938,139 (GRCm39)	S109P	probably damaging	Het
Cdh23	A	C	10: 60,149,979 (GRCm39)	I2622S	possibly damaging	Het
Cmya5	G	T	13: 93,226,265 (GRCm39)	T2941K	probably damaging	Het
Cntn1	T	C	15: 92,192,934 (GRCm39)	Y679H	probably damaging	Het
Cpsf1	A	G	15: 76,484,700 (GRCm39)	V619A	probably damaging	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Frem1	A	G	4: 82,938,917 (GRCm39)	V55A	probably benign	Het
Kif1b	A	T	4: 149,299,454 (GRCm39)	Y985N	probably damaging	Het
Lao1	A	G	4: 118,824,619 (GRCm39)	N234D	probably benign	Het
Lima1	C	T	15: 99,717,431 (GRCm39)	V192I	probably benign	Het
Lrp2	T	G	2: 69,338,153 (GRCm39)	D1209A	probably damaging	Het
Lrp2	C	A	2: 69,338,154 (GRCm39)	D1209Y	probably damaging	Het
Luzp1	A	G	4: 136,269,163 (GRCm39)	H462R	probably benign	Het
Mst1	T	C	9: 107,961,812 (GRCm39)	V657A	probably benign	Het
Mtmr11	A	G	3: 96,076,515 (GRCm39)	K490R	probably benign	Het
Myh3	A	G	11: 66,978,077 (GRCm39)	D383G	probably damaging	Het
Nectin1	G	A	9: 43,715,198 (GRCm39)	G478D	probably benign	Het
Nrip1	A	G	16: 76,091,554 (GRCm39)	M1T	probably null	Het
Odad1	A	G	7: 45,573,984 (GRCm39)	E17G	possibly damaging	Het
Odad2	G	T	18: 7,217,801 (GRCm39)	H638N	probably benign	Het
Or1j10	A	G	2: 36,267,145 (GRCm39)	D119G	probably damaging	Het
Or52z15	A	T	7: 103,332,471 (GRCm39)	H182L	probably damaging	Het
Pnisr	C	A	4: 21,874,370 (GRCm39)	F704L	unknown	Het
Ptpn21	T	A	12: 98,681,387 (GRCm39)	K82N	probably damaging	Het
Pyroxd2	T	G	19: 42,731,104 (GRCm39)		probably null	Het
Pzp	A	G	6: 128,489,274 (GRCm39)	S446P	possibly damaging	Het
Rbck1	T	A	2: 152,160,330 (GRCm39)	I450F	probably damaging	Het
Rnase4	T	A	14: 51,342,333 (GRCm39)	L19Q	probably damaging	Het
Rrp9	A	G	9: 106,358,516 (GRCm39)	E118G	probably damaging	Het
Sec22a	A	G	16: 35,168,005 (GRCm39)	S169P	probably benign	Het
Sema5b	G	A	16: 35,481,996 (GRCm39)	S957N	probably benign	Het
Serpina3g	A	T	12: 104,204,361 (GRCm39)		probably benign	Het
Skint2	A	T	4: 112,506,942 (GRCm39)	I322F	possibly damaging	Het
Spata31h1	G	A	10: 82,119,856 (GRCm39)	R4385W	probably benign	Het
Sspo	G	A	6: 48,469,460 (GRCm39)	C4471Y	probably damaging	Het
Stk16	T	A	1: 75,189,589 (GRCm39)	L167*	probably null	Het
Tanc2	G	A	11: 105,804,241 (GRCm39)	R245H		Het
Tdpoz1	G	A	3: 93,578,431 (GRCm39)	Q118*	probably null	Het
Tekt3	C	T	11: 62,961,277 (GRCm39)	R149*	probably null	Het
Tenm4	A	G	7: 96,501,564 (GRCm39)	E1256G	probably damaging	Het
Tie1	G	A	4: 118,335,621 (GRCm39)	R791C	probably damaging	Het
Tpr	T	A	1: 150,299,411 (GRCm39)	S1204T	possibly damaging	Het
Trim28	G	T	7: 12,758,289 (GRCm39)		probably benign	Het
Ucp1	A	G	8: 84,024,521 (GRCm39)	N282S	probably benign	Het
Unc80	T	A	1: 66,640,300 (GRCm39)	D1402E	possibly damaging	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Zfyve28	T	A	5: 34,356,999 (GRCm39)	K733M	probably damaging	Het

Other mutations in Mab21l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Mab21l1	APN	3	55,690,557 (GRCm39)	missense	probably damaging	1.00
IGL01479:Mab21l1	APN	3	55,691,253 (GRCm39)	missense	probably damaging	1.00
IGL02127:Mab21l1	APN	3	55,691,016 (GRCm39)	missense	probably benign	0.01
IGL02707:Mab21l1	APN	3	55,690,505 (GRCm39)	missense	possibly damaging	0.80
vermin	UTSW	3	55,691,307 (GRCm39)	missense	possibly damaging	0.95
R1529:Mab21l1	UTSW	3	55,691,254 (GRCm39)	nonsense	probably null
R1911:Mab21l1	UTSW	3	55,691,048 (GRCm39)	missense	possibly damaging	0.64
R5578:Mab21l1	UTSW	3	55,691,435 (GRCm39)	nonsense	probably null
R5973:Mab21l1	UTSW	3	55,690,533 (GRCm39)	missense	probably benign	0.32
R6008:Mab21l1	UTSW	3	55,690,518 (GRCm39)	missense	possibly damaging	0.93
R6373:Mab21l1	UTSW	3	55,690,505 (GRCm39)	missense	possibly damaging	0.80
R7471:Mab21l1	UTSW	3	55,691,307 (GRCm39)	missense	possibly damaging	0.95
R7779:Mab21l1	UTSW	3	55,690,796 (GRCm39)	missense	possibly damaging	0.67
R8122:Mab21l1	UTSW	3	55,690,905 (GRCm39)	missense	probably benign	0.06
R8405:Mab21l1	UTSW	3	55,690,659 (GRCm39)	missense	probably damaging	1.00
R8430:Mab21l1	UTSW	3	55,690,830 (GRCm39)	missense	probably damaging	1.00
R8503:Mab21l1	UTSW	3	55,690,604 (GRCm39)	nonsense	probably null
R8963:Mab21l1	UTSW	3	55,690,348 (GRCm39)	start gained	probably benign
R9420:Mab21l1	UTSW	3	55,690,674 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAAGACTCTGGTGTCCTACG -3'
(R):5'- TCCCCTGTGTGAGATGATGG -3'

Sequencing Primer
(F):5'- ACTCTGGTGTCCTACGAGTGC -3'
(R):5'- CCCCTGTGTGAGATGATGGTTAAATG -3'

Posted On

2019-12-20