Mutagenetix > Incidental Mutation

Incidental Mutation 'R4996:Slc15a5'

385245

Institutional Source

Beutler Lab

Gene Symbol

Slc15a5

Ensembl Gene

ENSMUSG00000044378

Gene Name

solute carrier family 15, member 5

Synonyms

9830102E05Rik

MMRRC Submission

042590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4996 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137960584-138056914 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138020583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 250 (T250M)

Ref Sequence

ENSEMBL: ENSMUSP00000129239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000141280] [ENSMUST00000171804]

AlphaFold

Q8CBB2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050132

SMART Domains

Protein: ENSMUSP00000050794
Gene: ENSMUSG00000044378

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	69	88	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
Pfam:PTR2	167	345	1.2e-8	PFAM
transmembrane domain	375	394	N/A	INTRINSIC
low complexity region	417	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111873

SMART Domains

Protein: ENSMUSP00000107504
Gene: ENSMUSG00000044378

Domain	Start	End	E-Value	Type
transmembrane domain	7	28	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	167	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141280

SMART Domains

Protein: ENSMUSP00000145169
Gene: ENSMUSG00000044378

Domain	Start	End	E-Value	Type
Pfam:PTR2	3	89	2.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154461

Predicted Effect

probably damaging
Transcript: ENSMUST00000171804
AA Change: T250M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: T250M

Domain	Start	End	E-Value	Type
Pfam:PTR2	101	485	4.3e-23	PFAM
low complexity region	536	543	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actl11	A	G	9: 107,808,934 (GRCm39)	I1086V	possibly damaging	Het
Adgrv1	T	C	13: 81,726,853 (GRCm39)	S500G	probably benign	Het
Ahcyl1	A	T	3: 107,575,603 (GRCm39)	V394E	probably damaging	Het
Alg9	T	C	9: 50,720,005 (GRCm39)	F494L	probably damaging	Het
Ankrd55	C	A	13: 112,492,622 (GRCm39)	D264E	possibly damaging	Het
Asb14	A	G	14: 26,634,073 (GRCm39)	N426S	possibly damaging	Het
Atm	A	T	9: 53,435,807 (GRCm39)	F168I	probably benign	Het
Atp13a4	A	T	16: 29,290,822 (GRCm39)	I209N	probably damaging	Het
BB014433	A	T	8: 15,092,166 (GRCm39)	L229Q	probably benign	Het
Calml3	T	C	13: 3,854,142 (GRCm39)	D21G	probably damaging	Het
Capn10	A	G	1: 92,872,858 (GRCm39)	N528S	probably damaging	Het
Ccnl2	T	A	4: 155,897,981 (GRCm39)	D141E	possibly damaging	Het
Cd163	A	G	6: 124,296,106 (GRCm39)	I817V	probably benign	Het
Cgnl1	CTTGCCCAGGTT	CTT	9: 71,632,108 (GRCm39)		probably benign	Het
Cln6	T	A	9: 62,757,937 (GRCm39)	I232N	probably damaging	Het
Col22a1	A	C	15: 71,879,010 (GRCm39)	V49G	probably damaging	Het
Csmd1	A	T	8: 15,960,452 (GRCm39)	M3321K	probably damaging	Het
Cyp2u1	T	A	3: 131,091,933 (GRCm39)	M196L	probably benign	Het
Dlec1	T	G	9: 118,975,118 (GRCm39)	L1566R	probably damaging	Het
Dnajc3	A	G	14: 119,209,839 (GRCm39)	T305A	probably benign	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Efhd1	G	T	1: 87,192,280 (GRCm39)	G37W	possibly damaging	Het
Exph5	G	C	9: 53,286,910 (GRCm39)	E1330D	possibly damaging	Het
Fbln2	A	T	6: 91,242,992 (GRCm39)	Y913F	probably benign	Het
Fmnl1	G	A	11: 103,073,482 (GRCm39)	S167N	possibly damaging	Het
Frs3	A	G	17: 48,012,635 (GRCm39)	E114G	probably damaging	Het
Gmpr2	T	C	14: 55,914,252 (GRCm39)	I169T	probably damaging	Het
Gria2	A	G	3: 80,614,448 (GRCm39)	S531P	probably damaging	Het
Hace1	G	A	10: 45,526,046 (GRCm39)	A296T	probably benign	Het
Ift70a1	C	T	2: 75,810,266 (GRCm39)	G606S	probably benign	Het
Inhbb	A	C	1: 119,348,548 (GRCm39)	L90R	probably damaging	Het
Insr	C	T	8: 3,242,665 (GRCm39)	R18Q	probably null	Het
Kdm6b	G	T	11: 69,296,557 (GRCm39)	P570Q	probably damaging	Het
Lama3	T	C	18: 12,651,800 (GRCm39)	V1803A	probably benign	Het
Lpin3	T	A	2: 160,747,207 (GRCm39)	L811Q	probably damaging	Het
Lrrc8e	C	T	8: 4,285,166 (GRCm39)	L464F	probably damaging	Het
Micall2	A	G	5: 139,696,344 (GRCm39)	S729P	probably benign	Het
Naca	C	T	10: 127,878,298 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,393,709 (GRCm39)	S1010T	probably damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,085,172 (GRCm39)	F136I	possibly damaging	Het
Nup210	A	T	6: 91,030,418 (GRCm39)	F137Y	probably benign	Het
Or1o3	A	G	17: 37,573,758 (GRCm39)	S266P	probably benign	Het
Or3a1c	A	G	11: 74,046,157 (GRCm39)	H59R	probably damaging	Het
Or8k32	T	C	2: 86,368,615 (GRCm39)	I215V	probably benign	Het
Otog	C	A	7: 45,948,030 (GRCm39)	H2344N	possibly damaging	Het
Otog	C	A	7: 45,954,934 (GRCm39)	C517*	probably null	Het
Pcdhac1	C	T	18: 37,225,580 (GRCm39)	Q798*	probably null	Het
Pdhx	T	C	2: 102,860,657 (GRCm39)	D330G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pgr	C	A	9: 8,900,914 (GRCm39)	P149Q	probably damaging	Het
Plaat1	G	A	16: 29,036,456 (GRCm39)	W31*	probably null	Het
Ppm1h	A	T	10: 122,777,245 (GRCm39)	I504F	probably damaging	Het
Ppp6r3	A	G	19: 3,523,833 (GRCm39)	S556P	probably damaging	Het
Ranbp9	G	A	13: 43,578,570 (GRCm39)	Q168*	probably null	Het
Relb	A	T	7: 19,349,528 (GRCm39)	L259Q	probably benign	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Rgcc	T	C	14: 79,527,716 (GRCm39)	D125G	possibly damaging	Het
Rmnd5b	A	G	11: 51,518,735 (GRCm39)	V86A	probably damaging	Het
Slc7a2	A	T	8: 41,365,599 (GRCm39)	K477*	probably null	Het
Slx9	A	T	10: 77,351,367 (GRCm39)	W14R	probably null	Het
Smc2	T	A	4: 52,461,042 (GRCm39)		probably null	Het
Sox5	A	T	6: 143,974,070 (GRCm39)	L226*	probably null	Het
Sp140l2	G	T	1: 85,224,815 (GRCm39)	A240E	probably benign	Het
Syne2	A	G	12: 75,990,724 (GRCm39)	E1903G	possibly damaging	Het
Tenm3	A	T	8: 48,688,861 (GRCm39)	I2226N	probably damaging	Het
Tmtc3	A	T	10: 100,283,086 (GRCm39)	I823N	probably damaging	Het
Top6bl	T	A	19: 4,676,112 (GRCm39)	K673N	probably benign	Het
Tor3a	T	C	1: 156,483,342 (GRCm39)	Y360C	probably damaging	Het
Trpc3	T	C	3: 36,716,967 (GRCm39)	E357G	probably benign	Het
Tubgcp6	A	T	15: 88,987,693 (GRCm39)	N1093K	possibly damaging	Het
Vmn1r64	T	A	7: 5,887,052 (GRCm39)	T164S	probably benign	Het
Vmn2r40	T	A	7: 8,911,166 (GRCm39)	Q709L	probably damaging	Het
Vmn2r81	A	T	10: 79,129,247 (GRCm39)	I713L	probably benign	Het
Washc5	T	C	15: 59,205,484 (GRCm39)	T686A	probably benign	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het

Other mutations in Slc15a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Slc15a5	APN	6	138,020,536 (GRCm39)	missense	probably damaging	1.00
IGL02090:Slc15a5	APN	6	138,020,598 (GRCm39)	missense	probably benign	0.00
R0288:Slc15a5	UTSW	6	137,994,914 (GRCm39)	splice site	probably benign
R0355:Slc15a5	UTSW	6	137,995,112 (GRCm39)	splice site	probably benign
R0825:Slc15a5	UTSW	6	137,995,087 (GRCm39)	missense	possibly damaging	0.84
R1470:Slc15a5	UTSW	6	138,049,992 (GRCm39)	missense	probably benign	0.01
R1470:Slc15a5	UTSW	6	138,049,992 (GRCm39)	missense	probably benign	0.01
R1721:Slc15a5	UTSW	6	138,049,845 (GRCm39)	splice site	probably benign
R1897:Slc15a5	UTSW	6	138,056,762 (GRCm39)	missense	possibly damaging	0.93
R4159:Slc15a5	UTSW	6	138,049,938 (GRCm39)	missense	possibly damaging	0.84
R4415:Slc15a5	UTSW	6	138,056,754 (GRCm39)	missense	probably benign	0.34
R4703:Slc15a5	UTSW	6	138,032,643 (GRCm39)	missense	probably benign	0.08
R4951:Slc15a5	UTSW	6	138,050,064 (GRCm39)	missense	probably damaging	1.00
R5268:Slc15a5	UTSW	6	138,056,751 (GRCm39)	missense	probably damaging	1.00
R5310:Slc15a5	UTSW	6	138,050,034 (GRCm39)	missense	probably benign	0.28
R5321:Slc15a5	UTSW	6	137,964,436 (GRCm39)	missense	probably benign	0.08
R5963:Slc15a5	UTSW	6	138,056,691 (GRCm39)	missense	probably damaging	1.00
R5988:Slc15a5	UTSW	6	138,020,529 (GRCm39)	missense	probably benign	0.07
R7400:Slc15a5	UTSW	6	138,050,055 (GRCm39)	missense	probably benign	0.01
R7515:Slc15a5	UTSW	6	138,020,496 (GRCm39)	missense	possibly damaging	0.89
R7604:Slc15a5	UTSW	6	138,056,784 (GRCm39)	missense	probably damaging	1.00
R7707:Slc15a5	UTSW	6	138,056,745 (GRCm39)	missense	probably damaging	1.00
R8344:Slc15a5	UTSW	6	138,056,898 (GRCm39)	missense	probably damaging	1.00
R8410:Slc15a5	UTSW	6	137,989,153 (GRCm39)	missense
R9020:Slc15a5	UTSW	6	138,032,704 (GRCm39)	missense	probably benign	0.00
R9157:Slc15a5	UTSW	6	137,961,456 (GRCm39)	missense
R9222:Slc15a5	UTSW	6	137,961,450 (GRCm39)	missense
R9526:Slc15a5	UTSW	6	138,049,954 (GRCm39)	missense	probably benign	0.02
R9618:Slc15a5	UTSW	6	138,032,779 (GRCm39)	missense	possibly damaging	0.90
Z1188:Slc15a5	UTSW	6	137,994,956 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCATCCTTACCTGCAGGAGG -3'
(R):5'- CATCTGGAGCTATCCTGTCAGC -3'

Sequencing Primer
(F):5'- AGGCACGTTCTGTACAGGATC -3'
(R):5'- GAGCTATCCTGTCAGCAGCTC -3'

Posted On

2016-05-10