Mutagenetix > Incidental Mutation

Incidental Mutation 'R8104:Slc44a3'

630632

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

067535-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8104 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121253177-121325993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121291521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 365 (V365G)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039197]

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000039197
AA Change: V365G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: V365G

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC
Pfam:Choline_transpo	291	607	2.3e-80	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.6%
20x: 94.6%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	C	A	17: 57,152,443 (GRCm39)	L666F	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Apoc3	T	G	9: 46,144,585 (GRCm39)	D79A	probably damaging	Het
Arfgap1	T	A	2: 180,621,022 (GRCm39)		probably null	Het
Ascc1	T	C	10: 59,843,551 (GRCm39)	S38P	probably benign	Het
Asl	C	T	5: 130,040,791 (GRCm39)	E389K	probably benign	Het
Atat1	A	T	17: 36,215,008 (GRCm39)	I215K	probably benign	Het
Bod1l	A	T	5: 41,991,075 (GRCm39)	L160*	probably null	Het
Cbl	C	A	9: 44,069,836 (GRCm39)	S637I	possibly damaging	Het
Ccdc112	A	C	18: 46,420,720 (GRCm39)	S343R	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Cspg4b	T	A	13: 113,456,263 (GRCm39)	F770I		Het
Dlgap3	A	G	4: 127,129,947 (GRCm39)	E907G	probably damaging	Het
Dsp	A	T	13: 38,352,600 (GRCm39)	E159D	probably benign	Het
Ech1	G	A	7: 28,524,728 (GRCm39)		probably benign	Het
Erbin	G	T	13: 103,971,485 (GRCm39)	N710K	possibly damaging	Het
Fbxw28	A	T	9: 109,155,357 (GRCm39)		probably null	Het
Gm4871	G	C	5: 144,969,012 (GRCm39)	D100E	probably damaging	Het
Got1l1	A	G	8: 27,687,619 (GRCm39)	I388T	probably damaging	Het
Ing5	T	A	1: 93,744,166 (GRCm39)	N184K	probably damaging	Het
Izumo3	A	T	4: 92,035,145 (GRCm39)	L24*	probably null	Het
Lig1	T	C	7: 13,020,491 (GRCm39)	V99A	possibly damaging	Het
Mbtps1	A	G	8: 120,255,794 (GRCm39)	Y488H	possibly damaging	Het
Muc5ac	A	G	7: 141,358,520 (GRCm39)	Y1240C	possibly damaging	Het
Nav3	T	C	10: 109,594,828 (GRCm39)	T1458A	probably damaging	Het
Nedd1	T	C	10: 92,527,778 (GRCm39)	E472G	probably damaging	Het
Nod2	A	T	8: 89,391,685 (GRCm39)	H664L	possibly damaging	Het
Ntrk3	A	G	7: 78,227,450 (GRCm39)	S28P	probably damaging	Het
Or14a257	A	G	7: 86,138,231 (GRCm39)	F176S	probably damaging	Het
Or1i2	C	T	10: 78,448,242 (GRCm39)	V78I	probably benign	Het
Or2ag17	T	A	7: 106,390,338 (GRCm39)		probably benign	Het
Or2ag17	C	A	7: 106,390,337 (GRCm39)		probably benign	Het
Or6c66b	T	A	10: 129,376,826 (GRCm39)	M140K	probably benign	Het
Pcdha4	G	T	18: 37,087,106 (GRCm39)	G430W	probably damaging	Het
Pcnx1	T	A	12: 82,030,385 (GRCm39)	Y1114*	probably null	Het
Pde6a	T	A	18: 61,364,566 (GRCm39)	D207E	probably damaging	Het
Plekhg1	T	A	10: 3,902,326 (GRCm39)	I540N		Het
Pnp2	A	T	14: 51,197,099 (GRCm39)	I62F	probably benign	Het
Rarg	C	A	15: 102,148,334 (GRCm39)	D258Y	probably damaging	Het
Rnps1	T	A	17: 24,643,484 (GRCm39)	M262K	unknown	Het
Scaf11	T	C	15: 96,316,483 (GRCm39)	D1027G	probably benign	Het
Serpina3a	A	T	12: 104,079,110 (GRCm39)		probably benign	Het
Slc25a1	A	G	16: 17,744,297 (GRCm39)		probably null	Het
Slc45a3	T	C	1: 131,904,754 (GRCm39)	F26L	probably benign	Het
Slc9a2	T	A	1: 40,757,809 (GRCm39)	I116K	probably damaging	Het
Stk36	T	A	1: 74,665,756 (GRCm39)	S700T	probably benign	Het
Tekt3	A	G	11: 62,968,945 (GRCm39)	D224G	probably benign	Het
Tgtp1	A	T	11: 48,877,841 (GRCm39)	I288N	probably damaging	Het
Ttn	C	T	2: 76,710,567 (GRCm39)	V8485M	unknown	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Uso1	T	A	5: 92,306,280 (GRCm39)	I79K	probably damaging	Het
Utp20	C	T	10: 88,593,766 (GRCm39)	D2215N	probably damaging	Het
Wdr43	C	T	17: 71,923,350 (GRCm39)	A32V	probably benign	Het
Zfp704	T	C	3: 9,630,301 (GRCm39)	D170G	probably benign	Het

Other mutations in Slc44a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc44a3	APN	3	121,320,842 (GRCm39)	missense	probably damaging	1.00
IGL01527:Slc44a3	APN	3	121,320,777 (GRCm39)	missense	probably damaging	1.00
IGL02304:Slc44a3	APN	3	121,320,723 (GRCm39)	missense	possibly damaging	0.48
IGL02419:Slc44a3	APN	3	121,283,906 (GRCm39)	missense	probably benign	0.03
IGL02836:Slc44a3	APN	3	121,325,366 (GRCm39)	missense	probably damaging	1.00
IGL02937:Slc44a3	APN	3	121,303,970 (GRCm39)	splice site	probably benign
IGL03219:Slc44a3	APN	3	121,257,169 (GRCm39)	missense	probably damaging	1.00
BB009:Slc44a3	UTSW	3	121,306,009 (GRCm39)	missense	possibly damaging	0.86
BB019:Slc44a3	UTSW	3	121,306,009 (GRCm39)	missense	possibly damaging	0.86
R0597:Slc44a3	UTSW	3	121,253,719 (GRCm39)	missense	probably benign
R0668:Slc44a3	UTSW	3	121,303,852 (GRCm39)	missense	probably damaging	0.96
R1355:Slc44a3	UTSW	3	121,325,320 (GRCm39)	missense	probably damaging	1.00
R1608:Slc44a3	UTSW	3	121,291,496 (GRCm39)	nonsense	probably null
R1617:Slc44a3	UTSW	3	121,254,914 (GRCm39)	missense	probably benign	0.19
R1912:Slc44a3	UTSW	3	121,325,815 (GRCm39)	missense	probably benign	0.00
R2027:Slc44a3	UTSW	3	121,257,059 (GRCm39)	splice site	probably benign
R2087:Slc44a3	UTSW	3	121,319,319 (GRCm39)	missense	probably damaging	0.99
R2199:Slc44a3	UTSW	3	121,307,393 (GRCm39)	missense	probably benign	0.02
R4707:Slc44a3	UTSW	3	121,320,723 (GRCm39)	missense	possibly damaging	0.48
R4736:Slc44a3	UTSW	3	121,303,855 (GRCm39)	missense	probably damaging	0.97
R4784:Slc44a3	UTSW	3	121,320,723 (GRCm39)	missense	possibly damaging	0.48
R4785:Slc44a3	UTSW	3	121,320,723 (GRCm39)	missense	possibly damaging	0.48
R5302:Slc44a3	UTSW	3	121,303,962 (GRCm39)	missense	probably damaging	1.00
R5835:Slc44a3	UTSW	3	121,320,849 (GRCm39)	missense	probably benign	0.03
R6252:Slc44a3	UTSW	3	121,307,386 (GRCm39)	missense	probably damaging	0.99
R6991:Slc44a3	UTSW	3	121,325,814 (GRCm39)	missense	probably benign	0.01
R7197:Slc44a3	UTSW	3	121,319,411 (GRCm39)	missense	probably benign	0.02
R7227:Slc44a3	UTSW	3	121,303,879 (GRCm39)	missense	possibly damaging	0.93
R7272:Slc44a3	UTSW	3	121,254,764 (GRCm39)	missense	probably damaging	0.99
R7932:Slc44a3	UTSW	3	121,306,009 (GRCm39)	missense	possibly damaging	0.86
R8529:Slc44a3	UTSW	3	121,319,334 (GRCm39)	missense	probably benign	0.36
R8679:Slc44a3	UTSW	3	121,283,918 (GRCm39)	missense	probably damaging	1.00
R8856:Slc44a3	UTSW	3	121,307,456 (GRCm39)	missense	probably damaging	1.00
R9053:Slc44a3	UTSW	3	121,320,839 (GRCm39)	missense	probably damaging	1.00
R9121:Slc44a3	UTSW	3	121,254,786 (GRCm39)	missense	probably benign	0.00
R9360:Slc44a3	UTSW	3	121,325,908 (GRCm39)	start gained	probably benign
Z1176:Slc44a3	UTSW	3	121,325,900 (GRCm39)	start gained	probably benign
Z1177:Slc44a3	UTSW	3	121,291,399 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCAGAGATGCATATACAAGCCAAAG -3'
(R):5'- TCACTGTCAATAGCGTTGGC -3'

Sequencing Primer
(F):5'- AACCTCAGGGATAAAAGAGTGGACTC -3'
(R):5'- GCGTTGGCACTATTTAAATTCTTAG -3'

Posted On

2020-06-30