Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Slc45a1'

355761

Institutional Source

Beutler Lab

Gene Symbol

Slc45a1

Ensembl Gene

ENSMUSG00000039838

Gene Name

solute carrier family 45, member 1

Synonyms

Dnb5

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150713052-150736631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150722741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 381 (L381P)

Ref Sequence

ENSEMBL: ENSMUSP00000112737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037827] [ENSMUST00000117997]

AlphaFold

Q8BIV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037827
AA Change: L381P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: L381P

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
Pfam:MFS_2	86	310	7.3e-11	PFAM
Pfam:MFS_1	92	356	1.4e-12	PFAM
transmembrane domain	529	551	N/A	INTRINSIC
transmembrane domain	575	597	N/A	INTRINSIC
transmembrane domain	604	626	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	680	702	N/A	INTRINSIC
transmembrane domain	712	734	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117997
AA Change: L381P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
AA Change: L381P

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
Pfam:MFS_2	87	307	1.6e-12	PFAM
Pfam:MFS_1	92	362	2.4e-12	PFAM
transmembrane domain	529	551	N/A	INTRINSIC
transmembrane domain	575	597	N/A	INTRINSIC
transmembrane domain	604	626	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC

Meta Mutation Damage Score

0.8056

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	Het

Other mutations in Slc45a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Slc45a1	APN	4	150,728,426 (GRCm39)	missense	probably damaging	1.00
IGL02009:Slc45a1	APN	4	150,722,447 (GRCm39)	missense	probably damaging	1.00
IGL02251:Slc45a1	APN	4	150,723,176 (GRCm39)	splice site	probably benign
IGL02752:Slc45a1	APN	4	150,722,478 (GRCm39)	missense	probably benign	0.01
IGL02881:Slc45a1	APN	4	150,722,987 (GRCm39)	missense	probably benign	0.36
PIT4508001:Slc45a1	UTSW	4	150,722,892 (GRCm39)	missense	probably benign	0.00
R0017:Slc45a1	UTSW	4	150,714,023 (GRCm39)	missense	possibly damaging	0.56
R0017:Slc45a1	UTSW	4	150,714,023 (GRCm39)	missense	possibly damaging	0.56
R0449:Slc45a1	UTSW	4	150,727,762 (GRCm39)	missense	probably damaging	1.00
R0756:Slc45a1	UTSW	4	150,727,054 (GRCm39)	frame shift	probably null
R1435:Slc45a1	UTSW	4	150,728,505 (GRCm39)	missense	probably damaging	1.00
R1837:Slc45a1	UTSW	4	150,722,916 (GRCm39)	missense	probably benign	0.00
R1943:Slc45a1	UTSW	4	150,728,734 (GRCm39)	missense	probably benign	0.02
R2186:Slc45a1	UTSW	4	150,722,708 (GRCm39)	missense	probably benign	0.01
R3766:Slc45a1	UTSW	4	150,722,517 (GRCm39)	missense	probably damaging	1.00
R4689:Slc45a1	UTSW	4	150,722,996 (GRCm39)	missense	probably benign	0.31
R4709:Slc45a1	UTSW	4	150,722,697 (GRCm39)	missense	probably benign	0.04
R5253:Slc45a1	UTSW	4	150,722,727 (GRCm39)	missense	probably damaging	0.98
R5387:Slc45a1	UTSW	4	150,728,366 (GRCm39)	intron	probably benign
R5914:Slc45a1	UTSW	4	150,713,997 (GRCm39)	missense	possibly damaging	0.57
R6259:Slc45a1	UTSW	4	150,722,817 (GRCm39)	missense	possibly damaging	0.63
R6290:Slc45a1	UTSW	4	150,727,096 (GRCm39)	missense	probably damaging	1.00
R6961:Slc45a1	UTSW	4	150,714,110 (GRCm39)	missense	probably damaging	0.99
R6981:Slc45a1	UTSW	4	150,723,051 (GRCm39)	missense	possibly damaging	0.48
R7099:Slc45a1	UTSW	4	150,714,030 (GRCm39)	missense	probably benign	0.00
R7209:Slc45a1	UTSW	4	150,719,669 (GRCm39)	splice site	probably null
R7601:Slc45a1	UTSW	4	150,713,994 (GRCm39)	missense	possibly damaging	0.78
R7615:Slc45a1	UTSW	4	150,723,002 (GRCm39)	missense	probably benign	0.01
R7730:Slc45a1	UTSW	4	150,715,397 (GRCm39)	missense	probably damaging	1.00
R7750:Slc45a1	UTSW	4	150,728,498 (GRCm39)	missense	probably damaging	1.00
R8022:Slc45a1	UTSW	4	150,722,766 (GRCm39)	missense	possibly damaging	0.71
R8768:Slc45a1	UTSW	4	150,714,206 (GRCm39)	missense	probably damaging	0.98
R9006:Slc45a1	UTSW	4	150,722,731 (GRCm39)	missense	probably damaging	1.00
R9258:Slc45a1	UTSW	4	150,723,071 (GRCm39)	missense	possibly damaging	0.88
R9388:Slc45a1	UTSW	4	150,727,067 (GRCm39)	missense	probably damaging	1.00
R9768:Slc45a1	UTSW	4	150,722,982 (GRCm39)	missense	probably benign
X0026:Slc45a1	UTSW	4	150,728,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGCACATCTCCATCCGAGC -3'
(R):5'- AGCTATGAAGAGCCCAAGCC -3'

Sequencing Primer
(F):5'- ATCCGAGCCCAAGGTGAG -3'
(R):5'- CCCACCTGTCCTGTTGGAG -3'

Posted On

2015-10-21