Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Slc38a10'

485036

Institutional Source

Beutler Lab

Gene Symbol

Slc38a10

Ensembl Gene

ENSMUSG00000061306

Gene Name

solute carrier family 38, member 10

Synonyms

1810073N04Rik

MMRRC Submission

044263-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120103960-120151346 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 120129312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 305 (Q305*)

Ref Sequence

ENSEMBL: ENSMUSP00000136719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045402] [ENSMUST00000053692] [ENSMUST00000076697] [ENSMUST00000103018] [ENSMUST00000179094]

AlphaFold

Q5I012

Predicted Effect

probably null
Transcript: ENSMUST00000045402
AA Change: Q305*

SMART Domains

Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: Q305*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	4	398	1.5e-54	PFAM
low complexity region	546	563	N/A	INTRINSIC
low complexity region	654	667	N/A	INTRINSIC
coiled coil region	699	735	N/A	INTRINSIC
low complexity region	827	837	N/A	INTRINSIC
low complexity region	1011	1019	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000053692
AA Change: Q305*

SMART Domains

Protein: ENSMUSP00000057615
Gene: ENSMUSG00000061306
AA Change: Q305*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	4	381	8.6e-57	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000076697
AA Change: Q305*

SMART Domains

Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306
AA Change: Q305*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	4	389	4.7e-57	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103018
AA Change: Q305*

SMART Domains

Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: Q305*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	4	398	8.5e-55	PFAM
low complexity region	546	563	N/A	INTRINSIC
low complexity region	654	667	N/A	INTRINSIC
coiled coil region	707	743	N/A	INTRINSIC
low complexity region	835	845	N/A	INTRINSIC
low complexity region	1019	1027	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154444

Predicted Effect

probably null
Transcript: ENSMUST00000179094
AA Change: Q305*

SMART Domains

Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: Q305*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	4	398	1e-54	PFAM
low complexity region	546	563	N/A	INTRINSIC
low complexity region	654	667	N/A	INTRINSIC
coiled coil region	707	743	N/A	INTRINSIC
low complexity region	835	845	N/A	INTRINSIC
low complexity region	1019	1027	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit a fragile skeleton, reduced adiposity, lean body mass, body weight/length, long bone length and bone mineral density, increased creatinine levels, reduced amylase and serum albumin levels, increased energy efficiency and oxygen consumption, and altered liver physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het

Other mutations in Slc38a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Slc38a10	APN	11	120138988	missense	probably damaging	1.00
IGL00236:Slc38a10	APN	11	120106602	missense	probably damaging	0.96
IGL01420:Slc38a10	APN	11	120106460	missense	probably damaging	0.99
IGL01704:Slc38a10	APN	11	120151087	utr 5 prime	probably benign
IGL01747:Slc38a10	APN	11	120134774	splice site	probably benign
IGL02295:Slc38a10	APN	11	120116858	splice site	probably benign
IGL02300:Slc38a10	APN	11	120110290	missense	probably benign	0.00
IGL02429:Slc38a10	APN	11	120134888	splice site	probably benign
IGL03155:Slc38a10	APN	11	120105119	missense	probably damaging	0.96
IGL03396:Slc38a10	APN	11	120128475	missense	probably damaging	1.00
Cascade	UTSW	11	120147819	missense	probably damaging	1.00
cherries	UTSW	11	120151077	start codon destroyed	probably null	1.00
Ore	UTSW	11	120134853	missense	probably damaging	1.00
rainier	UTSW	11	120129312	nonsense	probably null
slag	UTSW	11	120132741	missense	probably damaging	1.00
R0048:Slc38a10	UTSW	11	120110312	missense	probably benign	0.11
R0068:Slc38a10	UTSW	11	120134853	missense	probably damaging	1.00
R0068:Slc38a10	UTSW	11	120134853	missense	probably damaging	1.00
R0069:Slc38a10	UTSW	11	120106502	missense	probably damaging	1.00
R0101:Slc38a10	UTSW	11	120151077	start codon destroyed	probably null	1.00
R0743:Slc38a10	UTSW	11	120140643	missense	probably damaging	1.00
R1159:Slc38a10	UTSW	11	120105475	missense	probably benign
R2101:Slc38a10	UTSW	11	120132741	missense	probably damaging	1.00
R2367:Slc38a10	UTSW	11	120110261	missense	probably benign	0.12
R4280:Slc38a10	UTSW	11	120137878	missense	probably damaging	1.00
R4282:Slc38a10	UTSW	11	120129264	missense	probably damaging	1.00
R5206:Slc38a10	UTSW	11	120105062	missense	probably damaging	0.99
R5658:Slc38a10	UTSW	11	120105392	missense	probably benign	0.11
R6118:Slc38a10	UTSW	11	120132843	missense	probably damaging	1.00
R6306:Slc38a10	UTSW	11	120147819	missense	probably damaging	1.00
R6395:Slc38a10	UTSW	11	120124382	missense	probably benign	0.01
R6428:Slc38a10	UTSW	11	120105472	missense	probably benign	0.09
R7764:Slc38a10	UTSW	11	120105079	missense	probably damaging	1.00
R7835:Slc38a10	UTSW	11	120116996	missense	possibly damaging	0.95
R8790:Slc38a10	UTSW	11	120132693	missense	possibly damaging	0.95
R9151:Slc38a10	UTSW	11	120116936	missense	probably benign	0.00
R9227:Slc38a10	UTSW	11	120105955	missense	probably benign	0.20
R9230:Slc38a10	UTSW	11	120105955	missense	probably benign	0.20
X0062:Slc38a10	UTSW	11	120116900	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CCCCTATGCAGCAAGGAGAAAG -3'
(R):5'- GTAGAGCCTGGCATTCTGTC -3'

Sequencing Primer
(F):5'- GGAGCAAAACTAAGAGCAGAAG -3'
(R):5'- GGCATTCTGTCGGCTTCCATTAAAG -3'

Posted On

2017-08-16