Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Slc39a11'

171177

Institutional Source

Beutler Lab

Gene Symbol

Slc39a11

Ensembl Gene

ENSMUSG00000041654

Gene Name

solute carrier family 39 (metal ion transporter), member 11

Synonyms

1810074D23Rik

MMRRC Submission

039614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1576 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

113135679-113540905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 113450361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 41 (D41E)

Ref Sequence

ENSEMBL: ENSMUSP00000120929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042657] [ENSMUST00000071539] [ENSMUST00000106633] [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031] [ENSMUST00000149034]

AlphaFold

Q8BWY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042657
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037331
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
Pfam:Zip	8	366	1.8e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071539
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071469
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
Pfam:Zip	8	331	2.2e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106633
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102244
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
Pfam:Zip	7	338	3.6e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125890
AA Change: D41E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
Pfam:Zip	7	200	3.6e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136392
AA Change: D41E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000146031
AA Change: D41E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000149034
AA Change: D41E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120929
Gene: ENSMUSG00000041654
AA Change: D41E

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 23,298,483 (GRCm39)		probably benign	Het
Apol11a	T	A	15: 77,401,131 (GRCm39)	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,197,764 (GRCm39)	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,375,769 (GRCm39)	L75R	probably damaging	Het
Cfi	T	C	3: 129,666,699 (GRCm39)	V474A	probably damaging	Het
Dhx8	T	C	11: 101,643,145 (GRCm39)	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,495,798 (GRCm39)	H640L	probably benign	Het
Eif4g3	T	A	4: 137,824,181 (GRCm39)	M57K	probably damaging	Het
Emilin2	A	G	17: 71,562,112 (GRCm39)		probably null	Het
Epc1	T	C	18: 6,452,366 (GRCm39)	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,555,366 (GRCm39)	S1125I	probably damaging	Het
Fh1	G	A	1: 175,435,385 (GRCm39)	P366L	probably null	Het
Gata3	A	T	2: 9,868,007 (GRCm39)	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,532,992 (GRCm39)	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,597,407 (GRCm39)	T193S	probably benign	Het
Inpp5d	A	T	1: 87,609,280 (GRCm39)	I277F	probably damaging	Het
Itga5	T	C	15: 103,260,044 (GRCm39)	D616G	probably damaging	Het
Jade1	T	A	3: 41,546,242 (GRCm39)	V89E	probably damaging	Het
Lamb2	T	C	9: 108,357,506 (GRCm39)	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,527,590 (GRCm39)	P207L	probably damaging	Het
Maea	A	G	5: 33,520,040 (GRCm39)	D147G	probably damaging	Het
Muc6	T	A	7: 141,214,437 (GRCm39)	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,134,556 (GRCm39)	Y453C	probably damaging	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Nap1l1	A	G	10: 111,330,681 (GRCm39)	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nudt21	A	C	8: 94,755,461 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,310 (GRCm39)	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,489,756 (GRCm39)	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,114,648 (GRCm39)	S28P	probably damaging	Het
Polr2j	C	A	5: 136,148,882 (GRCm39)	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,276,318 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,427,647 (GRCm39)	D742G	probably damaging	Het
Pum2	A	G	12: 8,763,524 (GRCm39)	D227G	probably benign	Het
Rfxank	C	A	8: 70,586,953 (GRCm39)	R221L	possibly damaging	Het
Shank3	C	A	15: 89,387,866 (GRCm39)	Q317K	probably benign	Het
Slc22a17	A	G	14: 55,145,447 (GRCm39)	V460A	probably damaging	Het
Spag17	T	C	3: 99,846,679 (GRCm39)	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,710,272 (GRCm39)	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,796,749 (GRCm39)	D339E	probably damaging	Het
Tagln2	A	G	1: 172,332,788 (GRCm39)	D25G	probably benign	Het
Ttn	C	T	2: 76,625,194 (GRCm39)	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568 (GRCm39)	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,249,849 (GRCm39)	E138G	unknown	Het
Zfp879	T	A	11: 50,724,376 (GRCm39)	T227S	probably benign	Het

Other mutations in Slc39a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0011:Slc39a11	UTSW	11	113,138,659 (GRCm39)	missense	probably benign	0.00
R0614:Slc39a11	UTSW	11	113,414,452 (GRCm39)	critical splice acceptor site	probably null
R0621:Slc39a11	UTSW	11	113,354,905 (GRCm39)	missense	probably benign	0.25
R0798:Slc39a11	UTSW	11	113,414,330 (GRCm39)	missense	probably benign	0.04
R0959:Slc39a11	UTSW	11	113,354,899 (GRCm39)	missense	probably benign	0.31
R1386:Slc39a11	UTSW	11	113,138,550 (GRCm39)	missense	probably benign	0.31
R1533:Slc39a11	UTSW	11	113,196,748 (GRCm39)	missense	probably damaging	1.00
R2074:Slc39a11	UTSW	11	113,354,800 (GRCm39)	missense	probably null	0.98
R2127:Slc39a11	UTSW	11	113,260,629 (GRCm39)	missense	probably benign
R2218:Slc39a11	UTSW	11	113,450,376 (GRCm39)	critical splice acceptor site	probably null
R6259:Slc39a11	UTSW	11	113,354,780 (GRCm39)	missense	probably benign	0.10
R7420:Slc39a11	UTSW	11	113,138,648 (GRCm39)	missense	probably damaging	0.99
R7440:Slc39a11	UTSW	11	113,452,918 (GRCm39)	missense	probably damaging	0.96
R7447:Slc39a11	UTSW	11	113,452,849 (GRCm39)	missense	probably benign
R7805:Slc39a11	UTSW	11	113,482,781 (GRCm39)	splice site	probably null
R8557:Slc39a11	UTSW	11	113,141,385 (GRCm39)	missense	probably damaging	1.00
R9346:Slc39a11	UTSW	11	113,414,449 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc39a11	UTSW	11	113,141,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCTCGTAAGCTGGGGAGTGAAG -3'
(R):5'- ACTTGCTGTCAGTCCCACTACACG -3'

Sequencing Primer
(F):5'- CTGGGGAGTGAAGACAGTC -3'
(R):5'- CAACTTCTGGTTGACACTGGAATG -3'

Posted On

2014-04-13