Mutagenetix > Incidental Mutation

Incidental Mutation 'R0011:Slc39a11'

63226

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

038306-MU

Accession Numbers

Essential gene?

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

Stock #

R0011 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

113135679-113540905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113138659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 279 (F279L)

Ref Sequence

ENSEMBL: ENSMUSP00000102244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042657] [ENSMUST00000071539] [ENSMUST00000106633]

AlphaFold

Q8BWY7

Predicted Effect

probably benign
Transcript: ENSMUST00000042657
AA Change: F307L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037331
Gene: ENSMUSG00000041654
AA Change: F307L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071539
AA Change: F272L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071469
Gene: ENSMUSG00000041654
AA Change: F272L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106633
AA Change: F279L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102244
Gene: ENSMUSG00000041654
AA Change: F279L

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

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,380,213 (GRCm39)	Y344C	probably damaging	Het
Alox15	A	G	11: 70,240,422 (GRCm39)	V253A	possibly damaging	Het
Ank3	A	G	10: 69,815,281 (GRCm39)		probably benign	Het
Art3	T	A	5: 92,551,471 (GRCm39)	Y17N	probably damaging	Het
Asic3	C	T	5: 24,622,490 (GRCm39)		probably benign	Het
Bach2	G	T	4: 32,244,655 (GRCm39)		probably benign	Het
Brip1	C	A	11: 86,077,824 (GRCm39)	K201N	possibly damaging	Het
Ccdc88a	T	C	11: 29,324,364 (GRCm39)	F6S	probably damaging	Het
Cdcp3	T	A	7: 130,831,722 (GRCm39)	L389Q	probably damaging	Het
Celsr2	A	G	3: 108,320,718 (GRCm39)	I698T	probably benign	Het
Cenpf	A	G	1: 189,382,903 (GRCm39)	S2664P	probably benign	Het
Cfap54	A	T	10: 92,901,087 (GRCm39)	C156S	probably damaging	Het
Cops4	C	A	5: 100,675,847 (GRCm39)	Q28K	probably benign	Het
Cyb5a	T	A	18: 84,895,947 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,103,844 (GRCm39)	C847S	probably damaging	Het
Dnah3	T	C	7: 119,618,924 (GRCm39)	K1648R	probably damaging	Het
Dnai7	T	A	6: 145,124,781 (GRCm39)	M515L	probably damaging	Het
Emilin2	C	T	17: 71,580,863 (GRCm39)	G621E	probably benign	Het
Enpp1	T	A	10: 24,545,900 (GRCm39)	K228*	probably null	Het
Epg5	T	C	18: 77,991,698 (GRCm39)	C132R	probably benign	Het
Epha7	G	A	4: 28,962,564 (GRCm39)	D961N	probably benign	Het
G6pc2	C	A	2: 69,056,909 (GRCm39)		probably benign	Het
Gm7361	C	T	5: 26,463,876 (GRCm39)		probably benign	Het
Grin2c	T	C	11: 115,146,576 (GRCm39)	Y476C	probably damaging	Het
Hnrnpul1	T	G	7: 25,442,340 (GRCm39)		probably benign	Het
Igf2bp1	T	C	11: 95,896,410 (GRCm39)	D17G	probably damaging	Het
Insrr	T	C	3: 87,716,923 (GRCm39)	C688R	possibly damaging	Het
Itgb2l	T	C	16: 96,228,861 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,049,351 (GRCm39)	V322E	probably damaging	Het
Klk1	C	T	7: 43,878,959 (GRCm39)	T149I	probably benign	Het
Mbd3l1	A	G	9: 18,395,863 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,252,938 (GRCm39)		probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Npy4r	C	T	14: 33,868,680 (GRCm39)	V203M	probably damaging	Het
Or8g52	T	A	9: 39,630,923 (GRCm39)	N133K	probably benign	Het
Pik3r4	C	A	9: 105,521,836 (GRCm39)	T134K	probably benign	Het
Rdh19	T	A	10: 127,692,780 (GRCm39)	L149Q	probably damaging	Het
Sema3e	C	T	5: 14,194,025 (GRCm39)	R85*	probably null	Het
Shtn1	A	G	19: 59,020,650 (GRCm39)	S191P	possibly damaging	Het
Slc4a1	T	C	11: 102,247,936 (GRCm39)	K353E	possibly damaging	Het
Slc6a18	A	T	13: 73,813,738 (GRCm39)	M515K	possibly damaging	Het
Snapc4	A	G	2: 26,254,825 (GRCm39)	I1225T	probably benign	Het
Spidr	A	T	16: 15,784,467 (GRCm39)	W534R	probably benign	Het
Tmem202	T	A	9: 59,432,084 (GRCm39)	N81I	probably benign	Het
Tnfrsf1b	T	G	4: 144,949,536 (GRCm39)	R297S	possibly damaging	Het
Trim55	A	G	3: 19,725,163 (GRCm39)	T227A	probably benign	Het
Trim58	A	T	11: 58,533,946 (GRCm39)	T167S	probably benign	Het
Trp53i11	A	T	2: 93,029,698 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,640,699 (GRCm39)	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,759,030 (GRCm39)	T301I	probably damaging	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,679,654 (GRCm39)	V509A	probably damaging	Het
Zfp251	A	G	15: 76,738,754 (GRCm39)	V108A	probably benign	Het

Other mutations in Slc39a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1576:Slc39a11	UTSW	11	113,450,361 (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'- TGCCACTGTGTGTTGTCACATGCC -3'
(R):5'- ACGGGATACAAGTTATGTCCCAACCAG -3'

Sequencing Primer
(F):5'- CCAGTGGAGGCAGGGTTG -3'
(R):5'- gttatgtcccaaccagattgtc -3'

Posted On

2013-07-30