Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Mfsd13b'

522545

Institutional Source

Beutler Lab

Gene Symbol

Mfsd13b

Ensembl Gene

ENSMUSG00000030877

Gene Name

major facilitator superfamily domain containing 13B

Synonyms

4933427G17Rik

MMRRC Submission

044687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120581732-120614010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120594690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 321 (A321T)

Ref Sequence

ENSEMBL: ENSMUSP00000150654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033166] [ENSMUST00000149535] [ENSMUST00000216241]

AlphaFold

A0A1L1SUA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033166
AA Change: A321T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033166
Gene: ENSMUSG00000030877
AA Change: A321T

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	439	5.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133939
AA Change: A59T

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121409
Gene: ENSMUSG00000030877
AA Change: A59T

Domain	Start	End	E-Value	Type
transmembrane domain	48	67	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149535

SMART Domains

Protein: ENSMUSP00000115341
Gene: ENSMUSG00000030877

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000216241
AA Change: A321T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	T	2: 113,664,247 (GRCm39)	C679S	probably benign	Het
Atg4d	C	T	9: 21,179,756 (GRCm39)	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,256,113 (GRCm39)	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,349,283 (GRCm39)	H259L	probably benign	Het
Dennd3	A	T	15: 73,416,229 (GRCm39)	H493L	probably damaging	Het
Dnm1	T	A	2: 32,202,738 (GRCm39)	D759V	probably damaging	Het
Dvl1	T	A	4: 155,940,710 (GRCm39)	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819 (GRCm39)	V2156A	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Fam83c	A	G	2: 155,672,872 (GRCm39)	V295A	probably damaging	Het
Gphn	T	C	12: 78,727,170 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,266,128 (GRCm39)	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,745,628 (GRCm39)	Y96C	probably damaging	Het
Krt77	G	T	15: 101,771,358 (GRCm39)	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,178,761 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,670,823 (GRCm39)	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,533,169 (GRCm39)		probably null	Het
Ltbp4	A	T	7: 27,008,488 (GRCm39)	N1273K	probably damaging	Het
Mvb12b	A	T	2: 33,715,128 (GRCm39)	H167Q	probably benign	Het
Myo1g	T	A	11: 6,467,146 (GRCm39)	N230Y	possibly damaging	Het
Or7a41	A	T	10: 78,871,051 (GRCm39)	R140S	possibly damaging	Het
Prkar2b	G	T	12: 32,043,785 (GRCm39)		probably null	Het
Pwwp2a	G	T	11: 43,596,592 (GRCm39)	A586S	possibly damaging	Het
Ryr1	A	G	7: 28,794,917 (GRCm39)	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,007,143 (GRCm39)		probably null	Het
Slk	T	C	19: 47,624,908 (GRCm39)		probably null	Het
Snx3	A	G	10: 42,402,032 (GRCm39)	E82G	possibly damaging	Het
Spring1	T	C	5: 118,397,047 (GRCm39)	V92A	possibly damaging	Het
Srcin1	A	T	11: 97,425,600 (GRCm39)	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,895,521 (GRCm39)	E336G	probably benign	Het
Terf2ip	G	T	8: 112,744,834 (GRCm39)	V384F	probably damaging	Het
Tnn	T	A	1: 159,915,968 (GRCm39)	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,667,985 (GRCm39)	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het
Utp25	C	A	1: 192,800,698 (GRCm39)	R374L	probably damaging	Het
Vmn1r175	A	G	7: 23,508,030 (GRCm39)	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,763 (GRCm39)	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,781,137 (GRCm39)	N448Y	possibly damaging	Het

Other mutations in Mfsd13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:Mfsd13b	APN	7	120,598,132 (GRCm39)	missense	probably damaging	1.00
IGL02985:Mfsd13b	APN	7	120,599,395 (GRCm39)	missense	probably damaging	1.00
R1159:Mfsd13b	UTSW	7	120,613,766 (GRCm39)	missense	probably damaging	0.98
R2041:Mfsd13b	UTSW	7	120,591,139 (GRCm39)	splice site	probably benign
R2080:Mfsd13b	UTSW	7	120,591,047 (GRCm39)	missense	probably null
R4762:Mfsd13b	UTSW	7	120,590,549 (GRCm39)	missense	probably damaging	1.00
R4885:Mfsd13b	UTSW	7	120,590,711 (GRCm39)	missense	possibly damaging	0.80
R5082:Mfsd13b	UTSW	7	120,598,201 (GRCm39)	missense	possibly damaging	0.94
R5282:Mfsd13b	UTSW	7	120,591,056 (GRCm39)	missense	probably damaging	0.98
R5296:Mfsd13b	UTSW	7	120,590,961 (GRCm39)	missense	probably damaging	1.00
R5411:Mfsd13b	UTSW	7	120,599,346 (GRCm39)	missense	probably benign	0.03
R7347:Mfsd13b	UTSW	7	120,590,951 (GRCm39)	missense	probably benign	0.44
R8128:Mfsd13b	UTSW	7	120,590,495 (GRCm39)	missense	possibly damaging	0.79
R8520:Mfsd13b	UTSW	7	120,590,586 (GRCm39)	missense	probably benign
R9583:Mfsd13b	UTSW	7	120,598,134 (GRCm39)	missense	possibly damaging	0.56
Z1176:Mfsd13b	UTSW	7	120,590,900 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TAAGCTGTGATGCAACAGGTGG -3'
(R):5'- GTGGCTCATGCTGCTAACTC -3'

Sequencing Primer
(F):5'- TGCAACAGGTGGTGTAATCC -3'
(R):5'- GCTAACTCCAGCTACTCAAATTAAAG -3'

Posted On

2018-06-06