Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Slc38a10'

605934

Institutional Source

Beutler Lab

Gene Symbol

Slc38a10

Ensembl Gene

ENSMUSG00000061306

Gene Name

solute carrier family 38, member 10

Synonyms

1810073N04Rik

MMRRC Submission

045889-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120103960-120151346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120116996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 386 (I386T)

Ref Sequence

ENSEMBL: ENSMUSP00000099307 (fasta)

Gene Model

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

AlphaFold

Q5I012

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045402
AA Change: I386T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048675
Gene: ENSMUSG00000061306
AA Change: I386T

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 benign
Transcript: ENSMUST00000076697

SMART Domains

Protein: ENSMUSP00000075989
Gene: ENSMUSG00000061306

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103018
AA Change: I386T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099307
Gene: ENSMUSG00000061306
AA Change: I386T

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

probably damaging
Transcript: ENSMUST00000179094
AA Change: I386T

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136719
Gene: ENSMUSG00000061306
AA Change: I386T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727	D742G		Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452		probably benign	Het
Cachd1	G	T	4: 100,974,153		probably null	Het
Ccne1	G	T	7: 38,102,845	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296		probably null	Het
Lrp4	T	C	2: 91,495,042	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,568,572	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004	A183E	probably benign	Het
Neb	T	C	2: 52,150,577	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polr1a	T	C	6: 71,915,142	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911		probably null	Het
Rps26	C	T	10: 128,626,126	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170	R266S	probably benign	Het
Stab2	G	A	10: 86,872,619	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827	Y1081H	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
R6114:Slc38a10	UTSW	11	120129312	nonsense	probably null
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
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'- ACCAGAGTTCAGGGATTTGGG -3'
(R):5'- CCACAGTGGTTAAGAAACTTGACC -3'

Sequencing Primer
(F):5'- GTCGGGGCCTGTGTATGTACC -3'
(R):5'- GAAACTTGACCTTAGCCTGGC -3'

Posted On

2019-12-20