Mutagenetix > Incidental Mutation

Incidental Mutation 'R9698:Mfsd14b'

729450

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65212844-65260813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65221414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 293 (V293L)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054730] [ENSMUST00000155487]

AlphaFold

Q8CIA9

Predicted Effect

probably benign
Transcript: ENSMUST00000054730
AA Change: V293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: V293L

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.5e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155487
AA Change: V293L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: V293L

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.6e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,571,757 (GRCm39)	M1124V	probably benign	Het
Adamts9	A	G	6: 92,784,121 (GRCm39)	C1578R	probably damaging	Het
Adprs	T	C	4: 126,210,514 (GRCm39)	D322G	probably damaging	Het
Anks3	T	C	16: 4,766,113 (GRCm39)	E327G	probably benign	Het
Aspm	T	G	1: 139,389,646 (GRCm39)	N689K	probably benign	Het
Bsn	T	A	9: 107,993,170 (GRCm39)	I861F	probably damaging	Het
Camk2d	C	T	3: 126,633,833 (GRCm39)	H452Y	possibly damaging	Het
Cerk	T	C	15: 86,026,995 (GRCm39)	K477E	probably benign	Het
Cntn6	T	A	6: 104,810,044 (GRCm39)	Y575*	probably null	Het
Copg2	T	C	6: 30,838,373 (GRCm39)	E141G	probably damaging	Het
D430041D05Rik	A	G	2: 103,985,396 (GRCm39)	S1224P	probably damaging	Het
Dhrs3	T	C	4: 144,646,508 (GRCm39)	I186T	possibly damaging	Het
Erich2	A	G	2: 70,371,055 (GRCm39)	D431G	unknown	Het
Fmn2	T	A	1: 174,364,739 (GRCm39)	C559S	unknown	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Hoxa13	T	C	6: 52,236,024 (GRCm39)	T174A	probably benign	Het
Hrh3	A	G	2: 179,743,206 (GRCm39)	S141P	possibly damaging	Het
Hrnr	T	C	3: 93,233,094 (GRCm39)	S1111P	unknown	Het
Il12rb1	G	T	8: 71,263,848 (GRCm39)	Q136H	possibly damaging	Het
Kcna3	T	C	3: 106,944,405 (GRCm39)	S223P	probably benign	Het
Map10	T	A	8: 126,398,723 (GRCm39)	N705K	probably benign	Het
Marf1	C	A	16: 13,967,077 (GRCm39)	V345L	probably benign	Het
Mcub	C	T	3: 129,710,668 (GRCm39)	D255N	probably damaging	Het
Mroh3	T	C	1: 136,114,452 (GRCm39)	T625A	probably damaging	Het
Myo18a	A	G	11: 77,720,681 (GRCm39)	Y1152C	probably damaging	Het
Ncdn	T	C	4: 126,643,688 (GRCm39)	Y378C	probably damaging	Het
Or1e30	T	C	11: 73,678,442 (GRCm39)	L226P	probably damaging	Het
Or2m13	A	T	16: 19,226,342 (GRCm39)	C141*	probably null	Het
Or55b4	G	A	7: 102,133,377 (GRCm39)	Q317*	probably null	Het
Pcm1	T	C	8: 41,723,541 (GRCm39)	L342P	possibly damaging	Het
Pdlim1	T	A	19: 40,218,959 (GRCm39)	D224V	probably benign	Het
Plxnb1	A	G	9: 108,925,251 (GRCm39)		probably benign	Het
Pot1a	T	C	6: 25,744,615 (GRCm39)	I630V	probably damaging	Het
Ppil4	A	G	10: 7,683,033 (GRCm39)		probably null	Het
Ptpru	A	T	4: 131,547,531 (GRCm39)	I174K	probably benign	Het
Rab11fip4	T	A	11: 79,583,592 (GRCm39)	L612Q	probably damaging	Het
Rassf4	A	G	6: 116,618,662 (GRCm39)	L207P	probably damaging	Het
Reg3g	A	C	6: 78,444,805 (GRCm39)	S58A	probably benign	Het
Ric8b	T	C	10: 84,783,361 (GRCm39)	L73P	probably damaging	Het
Rmdn2	A	G	17: 79,957,729 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc46a2	A	G	4: 59,912,582 (GRCm39)	S397P	probably damaging	Het
Smpd3	A	T	8: 106,992,296 (GRCm39)	S86T	possibly damaging	Het
Sumf1	T	C	6: 108,131,923 (GRCm39)	H198R	probably benign	Het
Tagap1	C	G	17: 7,228,477 (GRCm39)	D18H	probably damaging	Het
Tcf23	C	T	5: 31,126,225 (GRCm39)	R35C	probably damaging	Het
Tdpoz8	T	A	3: 92,981,727 (GRCm39)	D174E	possibly damaging	Het
Tenm3	G	A	8: 48,689,246 (GRCm39)	L2114F	probably damaging	Het
Ttn	A	T	2: 76,773,718 (GRCm39)	I2301K	unknown	Het
Ubr4	A	G	4: 139,167,975 (GRCm39)	E1496G		Het
Usp48	T	C	4: 137,361,202 (GRCm39)	V756A	possibly damaging	Het
Zfp626	A	G	7: 27,518,440 (GRCm39)	I474V	possibly damaging	Het
Zfpm1	T	A	8: 123,063,868 (GRCm39)	S976T	unknown	Het

Other mutations in Mfsd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Mfsd14b	APN	13	65,214,515 (GRCm39)	missense	probably benign	0.00
IGL01935:Mfsd14b	APN	13	65,215,739 (GRCm39)	missense	probably benign
IGL01957:Mfsd14b	APN	13	65,234,907 (GRCm39)	missense	possibly damaging	0.90
R0555:Mfsd14b	UTSW	13	65,226,259 (GRCm39)	missense	probably benign	0.34
R0601:Mfsd14b	UTSW	13	65,234,964 (GRCm39)	missense	possibly damaging	0.88
R0988:Mfsd14b	UTSW	13	65,260,307 (GRCm39)	splice site	probably benign
R1136:Mfsd14b	UTSW	13	65,243,506 (GRCm39)	missense	probably benign	0.22
R1494:Mfsd14b	UTSW	13	65,243,485 (GRCm39)	missense	probably damaging	1.00
R2087:Mfsd14b	UTSW	13	65,215,796 (GRCm39)	missense	probably damaging	1.00
R4223:Mfsd14b	UTSW	13	65,214,422 (GRCm39)	utr 3 prime	probably benign
R5103:Mfsd14b	UTSW	13	65,234,907 (GRCm39)	missense	possibly damaging	0.56
R5568:Mfsd14b	UTSW	13	65,219,936 (GRCm39)	splice site	probably null
R5603:Mfsd14b	UTSW	13	65,221,420 (GRCm39)	missense	probably benign	0.00
R6181:Mfsd14b	UTSW	13	65,260,398 (GRCm39)	missense	probably benign	0.00
R6330:Mfsd14b	UTSW	13	65,243,500 (GRCm39)	missense	probably damaging	1.00
R6649:Mfsd14b	UTSW	13	65,214,599 (GRCm39)	missense	probably damaging	1.00
R7460:Mfsd14b	UTSW	13	65,219,837 (GRCm39)	missense	probably damaging	1.00
R7605:Mfsd14b	UTSW	13	65,214,591 (GRCm39)	missense	probably benign
R9034:Mfsd14b	UTSW	13	65,223,500 (GRCm39)	missense	probably damaging	1.00
R9268:Mfsd14b	UTSW	13	65,222,855 (GRCm39)	missense	probably damaging	1.00
R9545:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9597:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,214,522 (GRCm39)	missense	probably benign	0.00
R9633:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9672:Mfsd14b	UTSW	13	65,260,320 (GRCm39)	missense	probably benign	0.00
R9696:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9702:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9755:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9756:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9783:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9801:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9802:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9803:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
X0017:Mfsd14b	UTSW	13	65,219,867 (GRCm39)	missense	probably benign	0.08
X0027:Mfsd14b	UTSW	13	65,219,825 (GRCm39)	missense	probably benign	0.16
X0063:Mfsd14b	UTSW	13	65,226,299 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAGGCAACAGTTTGGAGG -3'
(R):5'- ATGCTTTCATTGTCTCCAAACTGAC -3'

Sequencing Primer
(F):5'- GGAACTCTTAGAAACTTGTACCCTTG -3'
(R):5'- TCATTGTCTCCAAACTGACATAGAC -3'

Posted On

2022-10-06