Mutagenetix > Incidental Mutations

Incidental Mutation 'R9360:Slc44a3'

708616

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9360 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 121532259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000039197

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Adam4	A	G	12: 81,421,487	L120P	probably damaging	Het
Asb6	A	G	2: 30,824,322	S259P	probably damaging	Het
Atp6v0a2	C	A	5: 124,629,194	S7R	possibly damaging	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Cacna1h	G	A	17: 25,375,362	A2274V	probably benign	Het
Caml	A	C	13: 55,623,217	N43H	probably damaging	Het
Ccar2	A	G	14: 70,141,996	S518P	probably damaging	Het
Cdkl3	A	G	11: 52,033,522	I546V	probably null	Het
Chac1	C	T	2: 119,352,373	T84I	probably damaging	Het
Col6a6	T	C	9: 105,767,487	T1201A	probably benign	Het
Csf1	T	C	3: 107,753,842	T120A	possibly damaging	Het
Ctsj	T	A	13: 61,003,820	I95F	probably benign	Het
Cyp4f17	C	T	17: 32,524,906	R353C	probably benign	Het
Depdc1a	A	G	3: 159,526,531	M640V	possibly damaging	Het
Dgkq	A	G	5: 108,650,603	V633A	probably damaging	Het
Fdft1	A	T	14: 63,177,740	Y14*	probably null	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Gfm2	T	A	13: 97,153,244	V179E	probably damaging	Het
Gm813	T	C	16: 58,613,871	D161G	probably benign	Het
Gpr12	A	G	5: 146,583,489	F208L	probably benign	Het
Greb1	A	G	12: 16,740,036	S4P	probably damaging	Het
Hlcs	A	T	16: 94,131,813	I717N	probably damaging	Het
Hormad1	G	A	3: 95,576,311	A145T	probably benign	Het
Kcmf1	A	T	6: 72,861,843	C33*	probably null	Het
Kif13a	A	T	13: 46,808,996	S561T	probably benign	Het
Klhl20	G	T	1: 161,093,699	P571Q	probably benign	Het
Kpna6	A	T	4: 129,653,842	M304K	probably benign	Het
Krt75	T	C	15: 101,568,294	K387E	probably damaging	Het
Lum	A	T	10: 97,568,890	K216*	probably null	Het
Meioc	A	G	11: 102,674,953	N409S	probably benign	Het
Mrpl20	T	C	4: 155,803,945		probably null	Het
Naa16	A	T	14: 79,356,503	I374N	probably benign	Het
Nbea	A	G	3: 56,035,898	I652T	possibly damaging	Het
Nhsl1	G	A	10: 18,319,150	G56R	probably damaging	Het
Obscn	T	C	11: 59,082,824	I1894V	probably benign	Het
Olfr1288	T	C	2: 111,479,339	I185T	probably benign	Het
Olfr157	A	G	4: 43,835,765	S242P	probably benign	Het
Olfr510	T	A	7: 108,667,770	L118Q	probably damaging	Het
Olfr859	T	A	9: 19,809,233	V305D	possibly damaging	Het
Olig2	A	C	16: 91,226,886	T163P	probably damaging	Het
Parp4	G	A	14: 56,641,318		probably null	Het
Pcdhb2	T	C	18: 37,296,498	I508T	probably damaging	Het
Pcdhga8	T	C	18: 37,726,734	F281S	probably damaging	Het
Pom121l12	T	A	11: 14,599,516	M74K	possibly damaging	Het
Prpf8	T	C	11: 75,490,330	Y219H	possibly damaging	Het
Rhag	T	C	17: 40,831,657	V251A	possibly damaging	Het
Rrs1	A	G	1: 9,546,620	*366W	probably null	Het
Sgpp2	A	G	1: 78,390,506	D92G	probably damaging	Het
Smg8	T	C	11: 87,078,130	M257V	probably benign	Het
Taar7e	T	A	10: 24,038,051	Y146*	probably null	Het
Tet2	G	T	3: 133,487,142	N510K	possibly damaging	Het
Tgfbr3	T	C	5: 107,109,684	I836M	unknown	Het
Thada	A	G	17: 84,191,982	V1929A	probably benign	Het
Tram1l1	A	T	3: 124,322,250	D353V	probably damaging	Het
Trf	T	A	9: 103,217,535		probably null	Het
Trim15	A	T	17: 36,867,050	C18S	probably damaging	Het
Vmn1r62	T	C	7: 5,675,953	I211T	probably damaging	Het
Zdhhc17	A	G	10: 110,947,304	V501A	probably benign	Het
Zfp563	A	G	17: 33,105,454	E341G	probably benign	Het

Other mutations in Slc44a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc44a3	APN	3	121527193	missense	probably damaging	1.00
IGL01527:Slc44a3	APN	3	121527128	missense	probably damaging	1.00
IGL02304:Slc44a3	APN	3	121527074	missense	possibly damaging	0.48
IGL02419:Slc44a3	APN	3	121490257	missense	probably benign	0.03
IGL02836:Slc44a3	APN	3	121531717	missense	probably damaging	1.00
IGL02937:Slc44a3	APN	3	121510321	splice site	probably benign
IGL03219:Slc44a3	APN	3	121463520	missense	probably damaging	1.00
BB009:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
BB019:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R0597:Slc44a3	UTSW	3	121460070	missense	probably benign
R0668:Slc44a3	UTSW	3	121510203	missense	probably damaging	0.96
R1355:Slc44a3	UTSW	3	121531671	missense	probably damaging	1.00
R1608:Slc44a3	UTSW	3	121497847	nonsense	probably null
R1617:Slc44a3	UTSW	3	121461265	missense	probably benign	0.19
R1912:Slc44a3	UTSW	3	121532166	missense	probably benign	0.00
R2027:Slc44a3	UTSW	3	121463410	splice site	probably benign
R2087:Slc44a3	UTSW	3	121525670	missense	probably damaging	0.99
R2199:Slc44a3	UTSW	3	121513744	missense	probably benign	0.02
R4707:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4736:Slc44a3	UTSW	3	121510206	missense	probably damaging	0.97
R4784:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4785:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R5302:Slc44a3	UTSW	3	121510313	missense	probably damaging	1.00
R5835:Slc44a3	UTSW	3	121527200	missense	probably benign	0.03
R6252:Slc44a3	UTSW	3	121513737	missense	probably damaging	0.99
R6991:Slc44a3	UTSW	3	121532165	missense	probably benign	0.01
R7197:Slc44a3	UTSW	3	121525762	missense	probably benign	0.02
R7227:Slc44a3	UTSW	3	121510230	missense	possibly damaging	0.93
R7272:Slc44a3	UTSW	3	121461115	missense	probably damaging	0.99
R7932:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R8104:Slc44a3	UTSW	3	121497872	missense	probably benign	0.01
R8529:Slc44a3	UTSW	3	121525685	missense	probably benign	0.36
R8679:Slc44a3	UTSW	3	121490269	missense	probably damaging	1.00
R8856:Slc44a3	UTSW	3	121513807	missense	probably damaging	1.00
R9053:Slc44a3	UTSW	3	121527190	missense	probably damaging	1.00
R9121:Slc44a3	UTSW	3	121461137	missense	probably benign	0.00
Z1176:Slc44a3	UTSW	3	121532251	start gained	probably benign
Z1177:Slc44a3	UTSW	3	121497750	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GGTTTATCTCCCAAAGGACAGAGG -3'
(R):5'- ACTTCTAACTCCAGGCGCTG -3'

Sequencing Primer
(F):5'- CCCAAAGGACAGAGGAGCCG -3'
(R):5'- AGGCGTCGCACAGTGGTC -3'

Posted On

2022-04-18