Mutagenetix > Incidental Mutation

Incidental Mutation 'R3107:Mab21l3'

263610

Institutional Source

Beutler Lab

Gene Symbol

Mab21l3

Ensembl Gene

ENSMUSG00000044313

Gene Name

mab-21-like 3

Synonyms

BC037703

MMRRC Submission

040581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R3107 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101720392-101743601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101734112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 109 (I109F)

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: I109F

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

SMART Domains

Protein: ENSMUSP00000059212
Gene: ENSMUSG00000044313
AA Change: I109F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118411
AA Change: I109F

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

SMART Domains

Protein: ENSMUSP00000112730
Gene: ENSMUSG00000044313
AA Change: I109F

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	A	T	17: 42,977,758 (GRCm39)	Y528*	probably null	Het
Ankrd26	A	T	6: 118,533,204 (GRCm39)	F198L	probably benign	Het
Arnt2	A	G	7: 83,911,652 (GRCm39)	S607P	possibly damaging	Het
Brd10	A	T	19: 29,700,847 (GRCm39)	L814H	probably damaging	Het
Ccdc17	T	C	4: 116,455,464 (GRCm39)	V269A	probably benign	Het
Cers1	T	A	8: 70,775,286 (GRCm39)	H233Q	probably benign	Het
Cfap54	T	C	10: 92,830,545 (GRCm39)	N1197S	probably benign	Het
Cfb	A	G	17: 35,080,800 (GRCm39)	Y66H	possibly damaging	Het
Clspn	A	G	4: 126,485,452 (GRCm39)	D1247G	probably benign	Het
Cnnm1	T	C	19: 43,430,000 (GRCm39)	C373R	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Cubn	T	C	2: 13,367,158 (GRCm39)	S1571G	possibly damaging	Het
Ddt	C	T	10: 75,608,597 (GRCm39)	E42K	probably benign	Het
Dmrt2	C	A	19: 25,655,055 (GRCm39)	T218N	probably benign	Het
Dnah7b	G	A	1: 46,392,033 (GRCm39)	G3798E	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam114a2	C	A	11: 57,390,561 (GRCm39)	K317N	probably benign	Het
Fyn	G	C	10: 39,427,451 (GRCm39)	D445H	probably damaging	Het
Gprasp1	A	T	X: 134,700,508 (GRCm39)	M234L	probably benign	Het
Ibtk	T	C	9: 85,592,467 (GRCm39)	Y997C	probably damaging	Het
Il12rb2	A	G	6: 67,337,782 (GRCm39)	V33A	probably damaging	Het
Ints6	T	C	14: 62,998,041 (GRCm39)	T23A	possibly damaging	Het
Itk	C	A	11: 46,218,291 (GRCm39)	G624V	probably benign	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mov10	T	C	3: 104,707,040 (GRCm39)	E653G	probably damaging	Het
Or8b51	C	T	9: 38,569,307 (GRCm39)	C127Y	possibly damaging	Het
Plg	T	C	17: 12,603,316 (GRCm39)	V74A	probably benign	Het
Ptprn2	A	G	12: 116,839,800 (GRCm39)	D441G	probably benign	Het
Rbmxl2	G	A	7: 106,809,624 (GRCm39)	G303E	probably damaging	Het
Satb1	A	T	17: 52,089,810 (GRCm39)	Y346N	possibly damaging	Het
Serpina1a	A	T	12: 103,820,100 (GRCm39)	I382N	probably damaging	Het
Slc6a2	C	A	8: 93,687,906 (GRCm39)	Q11K	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Sorcs1	T	C	19: 50,199,088 (GRCm39)	E825G	possibly damaging	Het
Sval1	C	G	6: 41,932,876 (GRCm39)	P145A	probably damaging	Het
Trhde	C	T	10: 114,427,971 (GRCm39)	E442K	probably damaging	Het
Vmn2r61	A	T	7: 41,916,491 (GRCm39)	D368V	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
R3405:Mab21l3	UTSW	3	101,730,847 (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'- TGGAAGAGCATCTGTGGAAACC -3'
(R):5'- TAAGCAGGCGACTCCTTTGG -3'

Sequencing Primer
(F):5'- ATCTGTGGAAACCTGGGGC -3'
(R):5'- AAGATTTTTGCCCTGACCTTGG -3'

Posted On

2015-02-05