Mutagenetix > Incidental Mutation

Incidental Mutation 'R3405:Mab21l3'

259322

Institutional Source

Beutler Lab

Gene Symbol

Mab21l3

Ensembl Gene

ENSMUSG00000044313

Gene Name

mab-21-like 3

Synonyms

BC037703

MMRRC Submission

040623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R3405 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101720392-101743601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101730847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 131 (V131F)

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: V131F

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

SMART Domains

Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: V131F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118411
AA Change: V131F

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

SMART Domains

Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: V131F

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

Meta Mutation Damage Score

0.3347

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Col3a1	G	A	1: 45,377,913 (GRCm39)		probably benign	Het
Cubn	C	T	2: 13,338,319 (GRCm39)	V2350I	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fancm	T	C	12: 65,122,546 (GRCm39)	S23P	probably benign	Het
Fmn1	A	G	2: 113,194,693 (GRCm39)	E131G	unknown	Het
Gm5612	A	T	9: 18,339,149 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hormad2	T	G	11: 4,374,302 (GRCm39)	Q88P	probably damaging	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Map3k4	A	T	17: 12,475,668 (GRCm39)	F809Y	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Myrfl	A	G	10: 116,658,770 (GRCm39)	F396L	probably damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nlrp9c	T	A	7: 26,084,707 (GRCm39)	I291F	probably benign	Het
Nrp1	T	A	8: 129,224,569 (GRCm39)	Y777*	probably null	Het
Ogdh	T	C	11: 6,299,462 (GRCm39)	V776A	probably damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Plg	G	T	17: 12,622,096 (GRCm39)	S472I	possibly damaging	Het
Pnlip	A	G	19: 58,669,191 (GRCm39)	T397A	probably benign	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Szt2	A	G	4: 118,251,217 (GRCm39)	V297A	probably benign	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	possibly damaging	Het

Other mutations in Mab21l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mab21l3	APN	3	101,730,771 (GRCm39)	missense	probably damaging	0.99
IGL01123:Mab21l3	APN	3	101,742,446 (GRCm39)	missense	probably benign	0.06
IGL01997:Mab21l3	APN	3	101,725,955 (GRCm39)	missense	probably damaging	0.99
IGL02423:Mab21l3	APN	3	101,726,045 (GRCm39)	missense	probably damaging	1.00
IGL02546:Mab21l3	APN	3	101,730,624 (GRCm39)	missense	probably damaging	1.00
R1268:Mab21l3	UTSW	3	101,742,363 (GRCm39)	missense	possibly damaging	0.88
R1803:Mab21l3	UTSW	3	101,742,446 (GRCm39)	missense	probably benign	0.06
R2056:Mab21l3	UTSW	3	101,722,469 (GRCm39)	missense	possibly damaging	0.55
R2104:Mab21l3	UTSW	3	101,730,744 (GRCm39)	missense	probably benign	0.31
R3107:Mab21l3	UTSW	3	101,734,112 (GRCm39)	missense	probably damaging	1.00
R3406:Mab21l3	UTSW	3	101,730,847 (GRCm39)	missense	probably damaging	1.00
R5715:Mab21l3	UTSW	3	101,730,723 (GRCm39)	missense	probably benign	0.36
R6612:Mab21l3	UTSW	3	101,725,961 (GRCm39)	missense	possibly damaging	0.55
R7183:Mab21l3	UTSW	3	101,722,469 (GRCm39)	missense	probably damaging	1.00
R8933:Mab21l3	UTSW	3	101,730,774 (GRCm39)	missense	probably benign
R9187:Mab21l3	UTSW	3	101,730,594 (GRCm39)	missense	probably benign	0.00
R9342:Mab21l3	UTSW	3	101,742,519 (GRCm39)	missense	possibly damaging	0.92
R9478:Mab21l3	UTSW	3	101,725,987 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAACATCTCAGTCTCCAGC -3'
(R):5'- CAAGTCACTCTGTTTGCCAC -3'

Sequencing Primer
(F):5'- AGTCTCCAGCCACTGTTGCAG -3'
(R):5'- TGTTTGCCACAGCCCCAG -3'

Posted On

2015-01-23