Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Slc45a1'

354762

Institutional Source

Beutler Lab

Gene Symbol

Slc45a1

Ensembl Gene

ENSMUSG00000039838

Gene Name

solute carrier family 45, member 1

Synonyms

Dnb5

MMRRC Submission

041940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150713052-150736631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150722996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 296 (L296Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112737 (fasta)

Gene Model

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

AlphaFold

Q8BIV7

Predicted Effect

probably benign
Transcript: ENSMUST00000037827
AA Change: L296Q

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838
AA Change: L296Q

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 benign
Transcript: ENSMUST00000117997
AA Change: L296Q

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838
AA Change: L296Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147706

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,532,422 (GRCm39)	F130L	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or4e2	T	C	14: 52,688,671 (GRCm39)	I267T	probably benign	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,350,144 (GRCm39)	L265F	probably benign	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Prpf3	G	A	3: 95,743,801 (GRCm39)	Q451*	probably null	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rasa1	A	T	13: 85,386,282 (GRCm39)	Y427*	probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	probably damaging	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
R4697:Slc45a1	UTSW	4	150,722,741 (GRCm39)	missense	probably damaging	1.00
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'- AACTCATTGATGCCTGTGAGG -3'
(R):5'- TTTCTCTCCACAGGTCTTGGAG -3'

Sequencing Primer
(F):5'- CTGATGAAGCTGCCATACTTG -3'
(R):5'- ACAGGTCTTGGAGGCGGG -3'

Posted On

2015-10-21