Mutagenetix > Incidental Mutation

Incidental Mutation 'R6059:Slc38a11'

483106

Institutional Source

Beutler Lab

Gene Symbol

Slc38a11

Ensembl Gene

ENSMUSG00000061171

Gene Name

solute carrier family 38, member 11

Synonyms

9330158F14Rik

MMRRC Submission

044225-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65146774-65194378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65165089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 234 (I234N)

Ref Sequence

ENSEMBL: ENSMUSP00000121205 (fasta)

Gene Model

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

AlphaFold

Q3USY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000112420
AA Change: I234N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: I234N

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

Predicted Effect

unknown
Transcript: ENSMUST00000124918
AA Change: I194N

SMART Domains

Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: I194N

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

Predicted Effect

unknown
Transcript: ENSMUST00000127623
AA Change: I158N

SMART Domains

Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: I158N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000152324
AA Change: I234N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: I234N

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

Meta Mutation Damage Score

0.4470

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	C	A	17: 48,400,847 (GRCm39)	T44K	probably benign	Het
Ablim2	A	G	5: 36,014,508 (GRCm39)	D189G	probably benign	Het
Abo	A	G	2: 26,733,365 (GRCm39)	V278A	possibly damaging	Het
Anxa1	A	G	19: 20,355,064 (GRCm39)	F237L	possibly damaging	Het
Atp11b	A	G	3: 35,868,326 (GRCm39)	Y466C	possibly damaging	Het
Cfh	T	A	1: 140,046,428 (GRCm39)	K531N	possibly damaging	Het
Cgref1	G	T	5: 31,102,728 (GRCm39)	P31Q	probably damaging	Het
Clca3a2	G	A	3: 144,516,531 (GRCm39)	A355V	probably damaging	Het
Cntnap5c	T	A	17: 58,620,707 (GRCm39)	C929S	probably damaging	Het
Col6a6	A	T	9: 105,661,116 (GRCm39)	V331D	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,301 (GRCm39)	V469E	possibly damaging	Het
Dchs2	A	G	3: 83,263,043 (GRCm39)	S3104G	probably benign	Het
Ddx24	G	T	12: 103,374,559 (GRCm39)	A875E	probably damaging	Het
Dsc1	A	T	18: 20,243,299 (GRCm39)	N51K	probably damaging	Het
Efcab3	T	C	11: 104,927,595 (GRCm39)	I4788T	probably benign	Het
Epb41l3	C	T	17: 69,593,793 (GRCm39)	T537I	probably damaging	Het
Epb41l3	A	G	17: 69,591,637 (GRCm39)	E708G	probably damaging	Het
Fam162b	A	T	10: 51,466,403 (GRCm39)	C39S	probably benign	Het
Garre1	G	A	7: 33,944,888 (GRCm39)	A452V	possibly damaging	Het
Gbf1	T	C	19: 46,253,687 (GRCm39)	I531T	probably damaging	Het
Glipr1l2	T	C	10: 111,919,423 (GRCm39)	V48A	probably benign	Het
Gorasp1	A	G	9: 119,759,072 (GRCm39)	V177A	probably damaging	Het
Gys1	A	G	7: 45,104,712 (GRCm39)		probably null	Het
Hif1a	T	A	12: 73,988,574 (GRCm39)	V523E	probably damaging	Het
Hnrnph3	A	T	10: 62,854,641 (GRCm39)		probably benign	Het
Lcn9	C	A	2: 25,714,737 (GRCm39)	L159I	possibly damaging	Het
Luzp1	C	T	4: 136,268,791 (GRCm39)	A338V	probably benign	Het
Map3k10	A	T	7: 27,356,247 (GRCm39)	S891T	probably damaging	Het
Mmrn2	C	T	14: 34,119,548 (GRCm39)	Q97*	probably null	Het
Mov10	G	A	3: 104,725,266 (GRCm39)		probably benign	Het
Ncam1	A	C	9: 49,455,966 (GRCm39)	Y551D	probably damaging	Het
Ncf1	A	T	5: 134,252,341 (GRCm39)	Y237N	probably damaging	Het
Nipbl	A	T	15: 8,325,052 (GRCm39)	I2537N	probably damaging	Het
Nlrp1b	A	T	11: 71,107,836 (GRCm39)	V555E	possibly damaging	Het
Nod2	T	C	8: 89,391,042 (GRCm39)	Y428H	probably damaging	Het
Nup133	C	A	8: 124,641,335 (GRCm39)	A862S	probably damaging	Het
Pcdhgb2	T	A	18: 37,823,078 (GRCm39)	L23*	probably null	Het
Pclo	A	G	5: 14,861,714 (GRCm39)	E4889G	unknown	Het
Plcd3	T	A	11: 102,971,227 (GRCm39)	I110F	possibly damaging	Het
Plxna2	C	A	1: 194,493,279 (GRCm39)	N1851K	possibly damaging	Het
Ppp2r5c	C	A	12: 110,541,222 (GRCm39)	A457E	probably benign	Het
Ppp5c	C	T	7: 16,761,832 (GRCm39)		probably benign	Het
Pramel25	T	G	4: 143,520,550 (GRCm39)	S101A	possibly damaging	Het
Prg4	T	A	1: 150,325,748 (GRCm39)	Y1009F	possibly damaging	Het
Rcor3	A	T	1: 191,804,240 (GRCm39)	M303K	probably benign	Het
Rrn3	G	A	16: 13,624,468 (GRCm39)	M433I	probably benign	Het
Serpinb9e	G	A	13: 33,441,757 (GRCm39)	V230M	probably benign	Het
Shisa6	T	A	11: 66,115,800 (GRCm39)	H279L	probably damaging	Het
Socs1	G	C	16: 10,602,394 (GRCm39)	F114L	probably damaging	Het
Ssc5d	C	T	7: 4,945,743 (GRCm39)	T925M	possibly damaging	Het
Stc1	T	C	14: 69,269,887 (GRCm39)	S156P	probably damaging	Het
Ttc5	C	G	14: 51,015,303 (GRCm39)	V103L	probably damaging	Het
Vmn1r73	A	G	7: 11,490,538 (GRCm39)	T119A	probably benign	Het
Vmn2r99	G	A	17: 19,599,242 (GRCm39)	D309N	probably benign	Het
Vps53	T	C	11: 75,957,693 (GRCm39)	H353R	possibly damaging	Het
Ythdf3	T	A	3: 16,257,356 (GRCm39)	Y47*	probably null	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het

Other mutations in Slc38a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Slc38a11	APN	2	65,184,126 (GRCm39)	missense	probably damaging	1.00
IGL01467:Slc38a11	APN	2	65,147,200 (GRCm39)	missense	probably benign	0.00
IGL02585:Slc38a11	APN	2	65,166,135 (GRCm39)	missense	probably benign	0.01
IGL03001:Slc38a11	APN	2	65,184,159 (GRCm39)	missense	probably damaging	0.97
R0458:Slc38a11	UTSW	2	65,193,813 (GRCm39)	critical splice acceptor site	probably null
R0514:Slc38a11	UTSW	2	65,147,209 (GRCm39)	missense	probably benign	0.08
R0815:Slc38a11	UTSW	2	65,184,124 (GRCm39)	missense	possibly damaging	0.79
R1695:Slc38a11	UTSW	2	65,147,315 (GRCm39)	missense	probably damaging	1.00
R1751:Slc38a11	UTSW	2	65,180,452 (GRCm39)	missense	probably benign	0.44
R1760:Slc38a11	UTSW	2	65,185,663 (GRCm39)	splice site	probably null
R1854:Slc38a11	UTSW	2	65,193,860 (GRCm39)	splice site	probably null
R1961:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	possibly damaging	0.65
R1991:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	probably benign	0.22
R2046:Slc38a11	UTSW	2	65,188,529 (GRCm39)	missense	probably damaging	0.99
R2078:Slc38a11	UTSW	2	65,160,728 (GRCm39)	missense	possibly damaging	0.81
R2103:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	probably benign	0.22
R3154:Slc38a11	UTSW	2	65,160,679 (GRCm39)	missense	probably damaging	0.98
R4358:Slc38a11	UTSW	2	65,188,460 (GRCm39)	missense	probably benign	0.01
R5635:Slc38a11	UTSW	2	65,191,747 (GRCm39)	critical splice acceptor site	probably null
R5729:Slc38a11	UTSW	2	65,147,365 (GRCm39)	missense	probably benign	0.00
R6755:Slc38a11	UTSW	2	65,194,235 (GRCm39)	missense	probably benign
R7339:Slc38a11	UTSW	2	65,156,914 (GRCm39)	missense	probably benign
R7360:Slc38a11	UTSW	2	65,184,139 (GRCm39)	missense	possibly damaging	0.95
R8397:Slc38a11	UTSW	2	65,160,635 (GRCm39)	missense	probably damaging	1.00
R9648:Slc38a11	UTSW	2	65,188,484 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GAACACGGATCGACTGGTAC -3'
(R):5'- AGCCTTCTGTGAAGTTCCTTG -3'

Sequencing Primer
(F):5'- TGGTACCAGTGCACTTGC -3'
(R):5'- AAGTTCCTTGTATGTAGGCCTTAC -3'

Posted On

2017-07-14