Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Slc44a3'

74318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121527193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 53 (G53D)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

AlphaFold

Q921V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039197
AA Change: G53D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: G53D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199889

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064 (GRCm38)	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773 (GRCm38)	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790 (GRCm38)		probably benign	Het
Aldh1a2	T	A	9: 71,285,966 (GRCm38)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549 (GRCm38)	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361 (GRCm38)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554 (GRCm38)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606 (GRCm38)		probably null	Het
Atp4a	T	A	7: 30,713,250 (GRCm38)	I127N	possibly damaging	Het
AY358078	T	A	14: 51,805,709 (GRCm38)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm38)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208 (GRCm38)	Q739*	probably null	Het
C8g	A	G	2: 25,499,077 (GRCm38)	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955 (GRCm38)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979 (GRCm38)	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357 (GRCm38)	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675 (GRCm38)		probably benign	Het
Cyth1	A	G	11: 118,193,613 (GRCm38)		probably null	Het
Dync1h1	A	T	12: 110,616,692 (GRCm38)		probably benign	Het
Ezh1	C	T	11: 101,203,436 (GRCm38)	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701 (GRCm38)	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665 (GRCm38)	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633 (GRCm38)	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144 (GRCm38)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774 (GRCm38)	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972 (GRCm38)	M272L	probably benign	Het
Kif19a	C	T	11: 114,781,799 (GRCm38)		probably benign	Het
Lcn2	T	G	2: 32,386,018 (GRCm38)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,812,265 (GRCm38)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,565,099 (GRCm38)		probably benign	Het
Macf1	T	C	4: 123,509,912 (GRCm38)	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844 (GRCm38)	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632 (GRCm38)		probably null	Het
Myo5a	T	A	9: 75,187,538 (GRCm38)		probably benign	Het
Nipa1	T	C	7: 55,979,661 (GRCm38)	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622 (GRCm38)	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207 (GRCm38)	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912 (GRCm38)	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975 (GRCm38)	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644 (GRCm38)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586 (GRCm38)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543 (GRCm38)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251 (GRCm38)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558 (GRCm38)	I284N	probably benign	Het
Slc9a4	A	C	1: 40,629,405 (GRCm38)	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571 (GRCm38)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750 (GRCm38)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112 (GRCm38)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702 (GRCm38)	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461 (GRCm38)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479 (GRCm38)	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073 (GRCm38)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712 (GRCm38)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634 (GRCm38)	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961 (GRCm38)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696 (GRCm38)	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680 (GRCm38)	V283E	possibly damaging	Het

Other mutations in Slc44a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Slc44a3	APN	3	121,527,128 (GRCm38)	missense	probably damaging	1.00
IGL02304:Slc44a3	APN	3	121,527,074 (GRCm38)	missense	possibly damaging	0.48
IGL02419:Slc44a3	APN	3	121,490,257 (GRCm38)	missense	probably benign	0.03
IGL02836:Slc44a3	APN	3	121,531,717 (GRCm38)	missense	probably damaging	1.00
IGL02937:Slc44a3	APN	3	121,510,321 (GRCm38)	splice site	probably benign
IGL03219:Slc44a3	APN	3	121,463,520 (GRCm38)	missense	probably damaging	1.00
BB009:Slc44a3	UTSW	3	121,512,360 (GRCm38)	missense	possibly damaging	0.86
BB019:Slc44a3	UTSW	3	121,512,360 (GRCm38)	missense	possibly damaging	0.86
R0597:Slc44a3	UTSW	3	121,460,070 (GRCm38)	missense	probably benign
R0668:Slc44a3	UTSW	3	121,510,203 (GRCm38)	missense	probably damaging	0.96
R1355:Slc44a3	UTSW	3	121,531,671 (GRCm38)	missense	probably damaging	1.00
R1608:Slc44a3	UTSW	3	121,497,847 (GRCm38)	nonsense	probably null
R1617:Slc44a3	UTSW	3	121,461,265 (GRCm38)	missense	probably benign	0.19
R1912:Slc44a3	UTSW	3	121,532,166 (GRCm38)	missense	probably benign	0.00
R2027:Slc44a3	UTSW	3	121,463,410 (GRCm38)	splice site	probably benign
R2087:Slc44a3	UTSW	3	121,525,670 (GRCm38)	missense	probably damaging	0.99
R2199:Slc44a3	UTSW	3	121,513,744 (GRCm38)	missense	probably benign	0.02
R4707:Slc44a3	UTSW	3	121,527,074 (GRCm38)	missense	possibly damaging	0.48
R4736:Slc44a3	UTSW	3	121,510,206 (GRCm38)	missense	probably damaging	0.97
R4784:Slc44a3	UTSW	3	121,527,074 (GRCm38)	missense	possibly damaging	0.48
R4785:Slc44a3	UTSW	3	121,527,074 (GRCm38)	missense	possibly damaging	0.48
R5302:Slc44a3	UTSW	3	121,510,313 (GRCm38)	missense	probably damaging	1.00
R5835:Slc44a3	UTSW	3	121,527,200 (GRCm38)	missense	probably benign	0.03
R6252:Slc44a3	UTSW	3	121,513,737 (GRCm38)	missense	probably damaging	0.99
R6991:Slc44a3	UTSW	3	121,532,165 (GRCm38)	missense	probably benign	0.01
R7197:Slc44a3	UTSW	3	121,525,762 (GRCm38)	missense	probably benign	0.02
R7227:Slc44a3	UTSW	3	121,510,230 (GRCm38)	missense	possibly damaging	0.93
R7272:Slc44a3	UTSW	3	121,461,115 (GRCm38)	missense	probably damaging	0.99
R7932:Slc44a3	UTSW	3	121,512,360 (GRCm38)	missense	possibly damaging	0.86
R8104:Slc44a3	UTSW	3	121,497,872 (GRCm38)	missense	probably benign	0.01
R8529:Slc44a3	UTSW	3	121,525,685 (GRCm38)	missense	probably benign	0.36
R8679:Slc44a3	UTSW	3	121,490,269 (GRCm38)	missense	probably damaging	1.00
R8856:Slc44a3	UTSW	3	121,513,807 (GRCm38)	missense	probably damaging	1.00
R9053:Slc44a3	UTSW	3	121,527,190 (GRCm38)	missense	probably damaging	1.00
R9121:Slc44a3	UTSW	3	121,461,137 (GRCm38)	missense	probably benign	0.00
R9360:Slc44a3	UTSW	3	121,532,259 (GRCm38)	start gained	probably benign
Z1176:Slc44a3	UTSW	3	121,532,251 (GRCm38)	start gained	probably benign
Z1177:Slc44a3	UTSW	3	121,497,750 (GRCm38)	missense	probably benign	0.07

Posted On

2013-10-07