Mutagenetix > Incidental Mutation

Incidental Mutation 'R4358:Slc38a11'

324643

Institutional Source

Beutler Lab

Gene Symbol

Slc38a11

Ensembl Gene

ENSMUSG00000061171

Gene Name

solute carrier family 38, member 11

Synonyms

9330158F14Rik

MMRRC Submission

041110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65316430-65364034 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65358116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 103 (K103R)

Ref Sequence

ENSEMBL: ENSMUSP00000121205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112420] [ENSMUST00000152324]

AlphaFold

Q3USY0

Predicted Effect

probably benign
Transcript: ENSMUST00000112420
AA Change: K103R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: K103R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	32	420	1.6e-66	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000124918
AA Change: K63R

SMART Domains

Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: K63R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	26	381	8.5e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000127623
AA Change: K49R

SMART Domains

Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: K49R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	1	345	1.2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145583

Predicted Effect

probably benign
Transcript: ENSMUST00000152324
AA Change: K103R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: K103R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	32	367	4.8e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155422

Predicted Effect

unknown
Transcript: ENSMUST00000155962
AA Change: K100R

SMART Domains

Protein: ENSMUSP00000118837
Gene: ENSMUSG00000061171
AA Change: K100R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	30	204	1.1e-30	PFAM
Pfam:Trp_Tyr_perm	31	201	3.8e-8	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,729,373	V7M	probably damaging	Het
Birc6	T	A	17: 74,619,668		probably null	Het
Chil3	G	A	3: 106,160,499	Q117*	probably null	Het
Daglb	T	C	5: 143,473,134		probably benign	Het
Dnah11	G	A	12: 118,125,843	R1163*	probably null	Het
Ftsj3	G	A	11: 106,253,676	A134V	probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Gfod2	T	C	8: 105,717,545	N122S	possibly damaging	Het
Golga4	A	G	9: 118,551,878	E507G	probably benign	Het
Ids	C	A	X: 70,346,344	G506C	probably damaging	Het
Ifna15	G	T	4: 88,557,842	T135N	probably benign	Het
Igsf9b	G	A	9: 27,309,478	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827		probably null	Het
L3hypdh	A	T	12: 72,077,424	D247E	probably damaging	Het
Lama2	A	T	10: 26,984,493	N2999K	probably damaging	Het
Lpcat2	C	A	8: 92,873,106	P234Q	probably benign	Het
Lrp10	C	T	14: 54,468,366	R338C	probably damaging	Het
Mcm9	A	C	10: 53,537,653	C444G	probably benign	Het
Mecom	G	A	3: 29,979,785	Q246*	probably null	Het
Mib1	A	G	18: 10,751,844	N242S	probably benign	Het
Olfr13	T	A	6: 43,174,226	M80K	probably damaging	Het
Olfr943	G	A	9: 39,184,568	C127Y	probably damaging	Het
P3h4	A	G	11: 100,413,626	F263S	probably damaging	Het
Pcsk1	T	C	13: 75,112,719	S354P	possibly damaging	Het
Pms2	T	A	5: 143,925,926	F617Y	probably damaging	Het
Prps2	T	A	X: 167,363,549	K176*	probably null	Het
Psmd13	G	T	7: 140,889,505		probably benign	Het
Pygl	G	A	12: 70,195,690	S573L	probably damaging	Het
Rapgef3	A	G	15: 97,748,648	V794A	probably benign	Het
Rasgrf2	C	A	13: 91,890,677	D1017Y	probably damaging	Het
Rb1cc1	A	G	1: 6,245,637	D555G	probably damaging	Het
Rptor	G	T	11: 119,671,345	E111D	probably damaging	Het
Sall4	T	C	2: 168,755,480	E480G	probably benign	Het
Scn4a	G	A	11: 106,348,857		probably null	Het
Scn8a	G	A	15: 100,940,133	A94T	probably benign	Het
Slc26a6	T	A	9: 108,861,783	C636S	probably benign	Het
Sned1	T	C	1: 93,274,659	L675P	probably benign	Het
Spsb1	T	C	4: 149,906,775	H112R	probably damaging	Het
Tmem132d	G	A	5: 127,984,341	T399M	possibly damaging	Het
Zfp939	A	G	7: 39,473,720		noncoding transcript	Het
Zfp951	T	C	5: 104,814,675	K342E	probably damaging	Het

Other mutations in Slc38a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Slc38a11	APN	2	65353782	missense	probably damaging	1.00
IGL01467:Slc38a11	APN	2	65316856	missense	probably benign	0.00
IGL02585:Slc38a11	APN	2	65335791	missense	probably benign	0.01
IGL03001:Slc38a11	APN	2	65353815	missense	probably damaging	0.97
R0458:Slc38a11	UTSW	2	65363469	critical splice acceptor site	probably null
R0514:Slc38a11	UTSW	2	65316865	missense	probably benign	0.08
R0815:Slc38a11	UTSW	2	65353780	missense	possibly damaging	0.79
R1695:Slc38a11	UTSW	2	65316971	missense	probably damaging	1.00
R1751:Slc38a11	UTSW	2	65350108	missense	probably benign	0.44
R1760:Slc38a11	UTSW	2	65355319	splice site	probably null
R1854:Slc38a11	UTSW	2	65363516	splice site	probably null
R1961:Slc38a11	UTSW	2	65330339	missense	possibly damaging	0.65
R1991:Slc38a11	UTSW	2	65330339	missense	probably benign	0.22
R2046:Slc38a11	UTSW	2	65358185	missense	probably damaging	0.99
R2078:Slc38a11	UTSW	2	65330384	missense	possibly damaging	0.81
R2103:Slc38a11	UTSW	2	65330339	missense	probably benign	0.22
R3154:Slc38a11	UTSW	2	65330335	missense	probably damaging	0.98
R5635:Slc38a11	UTSW	2	65361403	critical splice acceptor site	probably null
R5729:Slc38a11	UTSW	2	65317021	missense	probably benign	0.00
R6059:Slc38a11	UTSW	2	65334745	missense	probably damaging	1.00
R6755:Slc38a11	UTSW	2	65363891	missense	probably benign
R7339:Slc38a11	UTSW	2	65326570	missense	probably benign
R7360:Slc38a11	UTSW	2	65353795	missense	possibly damaging	0.95
R8397:Slc38a11	UTSW	2	65330291	missense	probably damaging	1.00
R9648:Slc38a11	UTSW	2	65358140	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TATGTGGATGTACGCATGCC -3'
(R):5'- AGACAATTCAGTTGAAGCATGC -3'

Sequencing Primer
(F):5'- ATGTACGCATGCCTCTGTG -3'
(R):5'- TTCAGTTGAAGCATGCAAACGC -3'

Posted On

2015-06-24