Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Mab21l1'

304398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mab21l1

Ensembl Gene

ENSMUSG00000056947

Gene Name

mab-21-like 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

55689931-55692422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55690505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 31 (I31F)

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

possibly damaging
Transcript: ENSMUST00000075422
AA Change: I31F

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074878
Gene: ENSMUSG00000056947
AA Change: I31F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199535

Meta Mutation Damage Score

0.3698

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 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,821,793 (GRCm39)	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	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
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
R7878:Mab21l1	UTSW	3	55,691,438 (GRCm39)	missense	probably benign	0.18
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

Posted On

2015-04-16