Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02546:Mab21l3'

297812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mab21l3

Ensembl Gene

ENSMUSG00000044313

Gene Name

mab-21-like 3 (C. elegans)

Synonyms

BC037703

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02546

Quality Score

Status

Chromosome

Chromosomal Location

101813076-101848959 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101823308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 205 (V205E)

Ref Sequence

ENSEMBL: ENSMUSP00000112730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061831] [ENSMUST00000118411]

AlphaFold

Q8CI17

Predicted Effect

probably damaging
Transcript: ENSMUST00000061831
AA Change: V205E

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

SMART Domains

Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: V205E

Domain	Start	End	E-Value	Type
Mab-21	124	422	3.17e-104	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118411
AA Change: V205E

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

SMART Domains

Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: V205E

Domain	Start	End	E-Value	Type
Mab-21	124	422	3.17e-104	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	A	T	10: 22,066,927	W385R	probably damaging	Het
A730017C20Rik	T	A	18: 59,072,275	M45K	probably damaging	Het
Akap6	G	T	12: 52,880,738	V144L	probably damaging	Het
Carmil1	A	T	13: 24,115,499	N347K	probably damaging	Het
Cyp4a32	A	G	4: 115,611,323	Y334C	probably damaging	Het
Dmxl2	C	A	9: 54,366,414		probably benign	Het
Eps8	C	T	6: 137,479,066	A806T	probably benign	Het
Evl	A	G	12: 108,648,419	N24S	possibly damaging	Het
Fbxo15	T	C	18: 84,962,722		probably null	Het
Gm14179	A	T	11: 99,743,193			Het
Hepacam2	A	G	6: 3,483,568	V147A	possibly damaging	Het
Jmjd1c	C	A	10: 67,225,336	P1156Q	possibly damaging	Het
Mad2l1	T	C	6: 66,535,967	I28T	probably damaging	Het
Mroh9	T	A	1: 163,080,576	I2F	probably benign	Het
Msr1	A	T	8: 39,615,747	I302K	probably benign	Het
Msrb3	C	T	10: 120,850,001	V80I	possibly damaging	Het
Ncf4	A	G	15: 78,261,019	D269G	probably damaging	Het
Nsl1	T	A	1: 191,071,201	H156Q	probably benign	Het
Nutm1	T	C	2: 112,248,324	D1082G	probably benign	Het
Olfr812	T	A	10: 129,842,547	D165V	probably damaging	Het
Olfr835	T	A	9: 19,035,354	V77D	possibly damaging	Het
Orc4	T	C	2: 48,917,284	I212V	probably null	Het
Pde6c	A	G	19: 38,140,040	I184V	probably benign	Het
Pfkfb3	A	T	2: 11,488,778	F129Y	probably damaging	Het
Ppp3cb	T	C	14: 20,501,554	D493G	probably benign	Het
Psg29	A	G	7: 17,208,782	Y236C	probably damaging	Het
Pzp	C	T	6: 128,494,699		probably benign	Het
Sgf29	T	A	7: 126,671,853	V180E	probably damaging	Het
Sh3bp4	A	G	1: 89,143,544		probably benign	Het
Slc39a2	A	T	14: 51,895,163	T188S	probably benign	Het
Slc6a13	G	T	6: 121,333,364	M327I	probably benign	Het
Slitrk6	T	A	14: 110,749,794	H827L	probably benign	Het
Thumpd2	T	G	17: 81,054,455	K114T	probably benign	Het
Tnfrsf19	A	T	14: 60,973,538	C234S	possibly damaging	Het
Tns2	A	G	15: 102,110,940	D446G	probably damaging	Het
Tpm4	A	G	8: 72,144,703	E137G	probably damaging	Het
Ttn	G	A	2: 76,795,557	R13307C	probably damaging	Het
Ubqln3	A	G	7: 104,142,518	S122P	probably benign	Het
Ubr5	T	C	15: 38,008,747	D1080G	probably benign	Het
Ulk4	A	T	9: 121,152,307	L886*	probably null	Het
Unc80	T	C	1: 66,554,953	S1164P	possibly damaging	Het
Uspl1	T	C	5: 149,204,304	V371A	possibly damaging	Het
Virma	T	C	4: 11,494,804	V35A	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp787	A	T	7: 6,132,298	I318N	probably damaging	Het

Other mutations in Mab21l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mab21l3	APN	3	101823455	missense	probably damaging	0.99
IGL01123:Mab21l3	APN	3	101835130	missense	probably benign	0.06
IGL01997:Mab21l3	APN	3	101818639	missense	probably damaging	0.99
IGL02423:Mab21l3	APN	3	101818729	missense	probably damaging	1.00
R1268:Mab21l3	UTSW	3	101835047	missense	possibly damaging	0.88
R1803:Mab21l3	UTSW	3	101835130	missense	probably benign	0.06
R2056:Mab21l3	UTSW	3	101815153	missense	possibly damaging	0.55
R2104:Mab21l3	UTSW	3	101823428	missense	probably benign	0.31
R3107:Mab21l3	UTSW	3	101826796	missense	probably damaging	1.00
R3405:Mab21l3	UTSW	3	101823531	missense	probably damaging	1.00
R3406:Mab21l3	UTSW	3	101823531	missense	probably damaging	1.00
R5715:Mab21l3	UTSW	3	101823407	missense	probably benign	0.36
R6612:Mab21l3	UTSW	3	101818645	missense	possibly damaging	0.55
R7183:Mab21l3	UTSW	3	101815153	missense	probably damaging	1.00
R8933:Mab21l3	UTSW	3	101823458	missense	probably benign
R9187:Mab21l3	UTSW	3	101823278	missense	probably benign	0.00
R9342:Mab21l3	UTSW	3	101835203	missense	possibly damaging	0.92
R9478:Mab21l3	UTSW	3	101818671	missense	probably damaging	1.00

Posted On

2015-04-16