Mutagenetix > Incidental Mutation

Incidental Mutation 'R9011:Slc45a3'

685612

Institutional Source

Beutler Lab

Gene Symbol

Slc45a3

Ensembl Gene

ENSMUSG00000026435

Gene Name

solute carrier family 45, member 3

Synonyms

Pcanap6, 2210413P12Rik, IPCA-6

MMRRC Submission

068841-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131890705-131910707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131905714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 246 (V246I)

Ref Sequence

ENSEMBL: ENSMUSP00000027695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027695] [ENSMUST00000177943] [ENSMUST00000190322]

AlphaFold

Q8K0H7

Predicted Effect

probably benign
Transcript: ENSMUST00000027695
AA Change: V246I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: V246I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	18	306	1.2e-12	PFAM
Pfam:MFS_2	21	408	5.4e-11	PFAM
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177943
AA Change: V246I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: V246I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	18	306	1.5e-12	PFAM
Pfam:MFS_2	19	239	2.4e-13	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
transmembrane domain	355	377	N/A	INTRINSIC
transmembrane domain	382	404	N/A	INTRINSIC
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190322

SMART Domains

Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435

Domain	Start	End	E-Value	Type
Pfam:MFS_2	20	218	3.3e-9	PFAM
Pfam:MFS_1	51	219	1.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,999,734 (GRCm39)	T177A	probably benign	Het
Adgrb2	G	A	4: 129,916,111 (GRCm39)	D1468N	probably damaging	Het
Aldh16a1	A	G	7: 44,794,951 (GRCm39)	F506S	probably damaging	Het
Ankfn1	A	T	11: 89,417,444 (GRCm39)	M56K	probably benign	Het
Atxn7l2	T	C	3: 108,114,756 (GRCm39)	S97G	probably benign	Het
Cacna1g	C	T	11: 94,306,663 (GRCm39)	G1905D	probably benign	Het
Ccdc192	A	T	18: 57,800,376 (GRCm39)	I176F	possibly damaging	Het
Ccne1	A	T	7: 37,806,085 (GRCm39)	M13K	probably benign	Het
Chil3	A	T	3: 106,057,031 (GRCm39)	Y304*	probably null	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Cldn23	T	A	8: 36,292,826 (GRCm39)	I221F	probably damaging	Het
Col16a1	T	C	4: 129,946,652 (GRCm39)	F92L	unknown	Het
Col6a3	A	T	1: 90,710,057 (GRCm39)		probably benign	Het
Cyp2w1	T	A	5: 139,340,314 (GRCm39)	V199E	possibly damaging	Het
Dmxl1	A	G	18: 49,997,240 (GRCm39)	Y512C	probably damaging	Het
Dop1a	A	T	9: 86,397,396 (GRCm39)	H900L	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif3l	T	G	15: 78,973,725 (GRCm39)	M380R	possibly damaging	Het
Fer1l5	A	T	1: 36,441,601 (GRCm39)	K605N	probably damaging	Het
Fgfbp1	T	G	5: 44,136,627 (GRCm39)	N222H	probably benign	Het
Flcn	A	G	11: 59,690,233 (GRCm39)	L273P	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gabpa	A	G	16: 84,638,209 (GRCm39)		probably benign	Het
Garin4	A	C	1: 190,895,258 (GRCm39)	S462A	probably benign	Het
Gfi1	A	G	5: 107,873,425 (GRCm39)		probably null	Het
Ift57	A	G	16: 49,579,777 (GRCm39)	Q316R	probably benign	Het
Itga11	T	C	9: 62,662,909 (GRCm39)	F542L	probably benign	Het
Kif28	G	C	1: 179,529,984 (GRCm39)	L726V	possibly damaging	Het
Krt90	A	G	15: 101,471,235 (GRCm39)	I9T	probably benign	Het
Lefty1	A	T	1: 180,765,241 (GRCm39)	M270L	probably benign	Het
Mipol1	A	T	12: 57,503,865 (GRCm39)	E344D	probably benign	Het
Mon2	A	T	10: 122,862,213 (GRCm39)	M737K	possibly damaging	Het
Mrpl14	A	G	17: 46,009,330 (GRCm39)	N143S	probably benign	Het
Nelfcd	T	A	2: 174,268,717 (GRCm39)	H589Q	probably benign	Het
Npepps	T	C	11: 97,131,757 (GRCm39)	M366V	probably damaging	Het
Or5b12	A	T	19: 12,897,479 (GRCm39)	S65T	probably damaging	Het
Platr25	T	A	13: 62,848,280 (GRCm39)	H194L	probably damaging	Het
Plekhg4	T	C	8: 106,102,284 (GRCm39)	I127T	probably benign	Het
Ralgapa1	A	T	12: 55,652,314 (GRCm39)		probably benign	Het
Rarb	A	G	14: 16,435,140 (GRCm38)	V302A	probably damaging	Het
Rc3h1	A	C	1: 160,792,673 (GRCm39)	T1037P	probably damaging	Het
Rnaset2a	G	A	17: 8,356,760 (GRCm39)	P102S	probably damaging	Het
Scn10a	A	C	9: 119,459,160 (GRCm39)	S1166R	probably damaging	Het
Scn3a	A	G	2: 65,352,170 (GRCm39)	M380T	possibly damaging	Het
Serpinb13	A	G	1: 106,923,519 (GRCm39)	I75V	probably benign	Het
Slc35f5	G	A	1: 125,490,050 (GRCm39)	A27T	probably benign	Het
Slc7a14	G	A	3: 31,278,345 (GRCm39)	T420I	probably damaging	Het
Slc9a9	A	G	9: 94,818,493 (GRCm39)	T296A	probably benign	Het
Smyd2	G	A	1: 189,628,833 (GRCm39)	H157Y	probably damaging	Het
Spata32	T	A	11: 103,100,677 (GRCm39)	H30L	probably benign	Het
Srarp	T	C	4: 141,160,344 (GRCm39)	E163G	possibly damaging	Het
Tcstv2a	A	G	13: 120,725,746 (GRCm39)	T137A	probably damaging	Het
Tmed8	A	G	12: 87,220,938 (GRCm39)	I216T	probably damaging	Het
Tnni3k	A	T	3: 154,562,186 (GRCm39)	L697Q	probably damaging	Het
Tra2b	G	A	16: 22,065,940 (GRCm39)	R286C	unknown	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Ttn	T	C	2: 76,540,506 (GRCm39)	D34160G	possibly damaging	Het
Umad1	T	A	6: 8,373,931 (GRCm39)	C36*	probably null	Het
Ush2a	A	T	1: 188,638,676 (GRCm39)	T4029S	probably damaging	Het
Usp9y	C	T	Y: 1,316,978 (GRCm39)	S1857N	probably benign	Het
Vwa3b	A	G	1: 37,154,767 (GRCm39)	N517S	probably damaging	Het
Zfp583	G	A	7: 6,319,627 (GRCm39)	P462S	probably damaging	Het

Other mutations in Slc45a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Slc45a3	APN	1	131,905,265 (GRCm39)	missense	probably damaging	0.98
IGL01626:Slc45a3	APN	1	131,906,725 (GRCm39)	missense	possibly damaging	0.73
IGL01677:Slc45a3	APN	1	131,906,708 (GRCm39)	missense	probably damaging	0.99
F6893:Slc45a3	UTSW	1	131,909,075 (GRCm39)	missense	probably benign
R0122:Slc45a3	UTSW	1	131,905,478 (GRCm39)	missense	probably damaging	1.00
R0402:Slc45a3	UTSW	1	131,905,265 (GRCm39)	missense	possibly damaging	0.85
R1596:Slc45a3	UTSW	1	131,909,267 (GRCm39)	missense	probably damaging	1.00
R1647:Slc45a3	UTSW	1	131,905,262 (GRCm39)	missense	probably damaging	1.00
R1752:Slc45a3	UTSW	1	131,905,259 (GRCm39)	missense	probably damaging	1.00
R1771:Slc45a3	UTSW	1	131,904,694 (GRCm39)	missense	possibly damaging	0.51
R1776:Slc45a3	UTSW	1	131,904,694 (GRCm39)	missense	possibly damaging	0.51
R2071:Slc45a3	UTSW	1	131,905,370 (GRCm39)	missense	probably damaging	1.00
R2939:Slc45a3	UTSW	1	131,905,637 (GRCm39)	missense	probably damaging	1.00
R4230:Slc45a3	UTSW	1	131,909,399 (GRCm39)	missense	probably damaging	0.96
R4876:Slc45a3	UTSW	1	131,909,285 (GRCm39)	missense	possibly damaging	0.48
R4906:Slc45a3	UTSW	1	131,909,315 (GRCm39)	missense	probably damaging	1.00
R5265:Slc45a3	UTSW	1	131,905,932 (GRCm39)	missense	possibly damaging	0.46
R5964:Slc45a3	UTSW	1	131,905,811 (GRCm39)	missense	probably damaging	0.98
R6849:Slc45a3	UTSW	1	131,905,702 (GRCm39)	missense	probably damaging	1.00
R7483:Slc45a3	UTSW	1	131,904,549 (GRCm39)	start gained	probably benign
R8104:Slc45a3	UTSW	1	131,904,754 (GRCm39)	missense	probably benign	0.29
R8322:Slc45a3	UTSW	1	131,905,523 (GRCm39)	missense	probably damaging	0.99
R8333:Slc45a3	UTSW	1	131,905,928 (GRCm39)	missense	probably damaging	1.00
R9035:Slc45a3	UTSW	1	131,909,187 (GRCm39)	frame shift	probably null
R9101:Slc45a3	UTSW	1	131,905,175 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TACCTGCCATTGACTGGGAC -3'
(R):5'- CTTCATCATAGTGTCTCCGGG -3'

Sequencing Primer
(F):5'- TGGGACACCAGCGTTCTG -3'
(R):5'- ATAGTGTCTCCGGGCCTCG -3'

Posted On

2021-10-11