Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Slc18b1'

205827

Institutional Source

Beutler Lab

Gene Symbol

Slc18b1

Ensembl Gene

ENSMUSG00000037455

Gene Name

solute carrier family 18, subfamily B, member 1

Synonyms

1110021L09Rik

MMRRC Submission

039867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23672884-23703866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23681891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 152 (S152P)

Ref Sequence

ENSEMBL: ENSMUSP00000112634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119597] [ENSMUST00000133289] [ENSMUST00000134170] [ENSMUST00000179321]

AlphaFold

D3Z5L6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119597
AA Change: S152P

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112634
Gene: ENSMUSG00000037455
AA Change: S152P

Domain	Start	End	E-Value	Type
low complexity region	4	32	N/A	INTRINSIC
Pfam:MFS_1	40	254	3.2e-26	PFAM
Pfam:MFS_1	237	454	7.4e-23	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000127841
AA Change: S6P

Predicted Effect

probably benign
Transcript: ENSMUST00000133289

SMART Domains

Protein: ENSMUSP00000121289
Gene: ENSMUSG00000037455

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	90	112	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134170

SMART Domains

Protein: ENSMUSP00000116940
Gene: ENSMUSG00000037455

Domain	Start	End	E-Value	Type
low complexity region	4	32	N/A	INTRINSIC
Pfam:MFS_1	40	129	1.4e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179321
AA Change: S152P

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137431
Gene: ENSMUSG00000037455
AA Change: S152P

Domain	Start	End	E-Value	Type
low complexity region	4	32	N/A	INTRINSIC
Pfam:MFS_1	40	262	2.4e-26	PFAM
Pfam:LacY_symp	226	454	3.9e-8	PFAM
Pfam:MFS_1	241	456	4.9e-23	PFAM
Pfam:MFS_2	253	458	3.7e-9	PFAM

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Hspa5	A	G	2: 34,665,815 (GRCm39)	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	probably damaging	Het

Other mutations in Slc18b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Slc18b1	APN	10	23,700,659 (GRCm39)	critical splice donor site	probably null
IGL01474:Slc18b1	APN	10	23,679,748 (GRCm39)	missense	probably benign	0.35
IGL01788:Slc18b1	APN	10	23,701,899 (GRCm39)	missense	probably damaging	0.96
IGL02660:Slc18b1	APN	10	23,686,850 (GRCm39)	splice site	probably benign
IGL03049:Slc18b1	APN	10	23,698,844 (GRCm39)	missense	probably benign	0.01
IGL03106:Slc18b1	APN	10	23,702,557 (GRCm39)	makesense	probably null
R0440:Slc18b1	UTSW	10	23,694,976 (GRCm39)	missense	probably benign	0.16
R0633:Slc18b1	UTSW	10	23,681,936 (GRCm39)	missense	probably benign	0.00
R1086:Slc18b1	UTSW	10	23,679,693 (GRCm39)	missense	probably benign	0.02
R1572:Slc18b1	UTSW	10	23,674,639 (GRCm39)	splice site	probably benign
R2256:Slc18b1	UTSW	10	23,686,820 (GRCm39)	missense	probably benign	0.25
R3423:Slc18b1	UTSW	10	23,698,874 (GRCm39)	missense	probably damaging	0.99
R3424:Slc18b1	UTSW	10	23,698,874 (GRCm39)	missense	probably damaging	0.99
R3425:Slc18b1	UTSW	10	23,698,874 (GRCm39)	missense	probably damaging	0.99
R3765:Slc18b1	UTSW	10	23,674,647 (GRCm39)	missense	probably damaging	0.99
R3766:Slc18b1	UTSW	10	23,674,647 (GRCm39)	missense	probably damaging	0.99
R4063:Slc18b1	UTSW	10	23,681,879 (GRCm39)	missense	probably benign	0.01
R4779:Slc18b1	UTSW	10	23,696,767 (GRCm39)	missense	possibly damaging	0.71
R5714:Slc18b1	UTSW	10	23,674,664 (GRCm39)	missense	probably benign	0.00
R5910:Slc18b1	UTSW	10	23,700,565 (GRCm39)	intron	probably benign
R6084:Slc18b1	UTSW	10	23,680,110 (GRCm39)	missense	probably benign	0.15
R6789:Slc18b1	UTSW	10	23,692,227 (GRCm39)	missense	probably benign	0.02
R6868:Slc18b1	UTSW	10	23,680,132 (GRCm39)	missense	possibly damaging	0.95
R6959:Slc18b1	UTSW	10	23,701,942 (GRCm39)	splice site	probably null
R7632:Slc18b1	UTSW	10	23,702,080 (GRCm39)	missense	probably benign
R8101:Slc18b1	UTSW	10	23,698,841 (GRCm39)	missense	probably damaging	1.00
R8757:Slc18b1	UTSW	10	23,692,198 (GRCm39)	synonymous	silent
R8838:Slc18b1	UTSW	10	23,696,764 (GRCm39)	missense	probably benign	0.25
R8868:Slc18b1	UTSW	10	23,686,751 (GRCm39)	missense	probably damaging	0.98
R9112:Slc18b1	UTSW	10	23,692,262 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGATAGCTAAGCTGTCATGGC -3'
(R):5'- TGCTATTGGAACTGGAAATCACAG -3'

Sequencing Primer
(F):5'- AGGCTGGTCTTGAACTCACACAG -3'
(R):5'- TATTGGAACTGGAAATCACAGTGAAG -3'

Posted On

2014-06-23