Mutagenetix > Incidental Mutation

Incidental Mutation 'R7805:Slc39a11'

628689

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

045860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113135679-113540905 bp(-) (GRCm39)

Type of Mutation

splice site (21429 bp from exon)

DNA Base Change (assembly)

T to C at 113482781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125890] [ENSMUST00000136392] [ENSMUST00000146031]

AlphaFold

Q8BWY7

Predicted Effect

probably benign
Transcript: ENSMUST00000125890

SMART Domains

Protein: ENSMUSP00000115472
Gene: ENSMUSG00000041654

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

Predicted Effect

probably null
Transcript: ENSMUST00000136392

Predicted Effect

probably benign
Transcript: ENSMUST00000146031

SMART Domains

Protein: ENSMUSP00000121286
Gene: ENSMUSG00000041654

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,624,128 (GRCm39)		probably null	Het
Aida	A	G	1: 183,085,633 (GRCm39)	K44R	probably damaging	Het
Ano5	G	A	7: 51,187,548 (GRCm39)	V79M	probably damaging	Het
Armc9	G	A	1: 86,124,041 (GRCm39)	G405D	probably damaging	Het
Baat	T	A	4: 49,490,327 (GRCm39)	R252S	probably benign	Het
C9orf72	G	T	4: 35,194,170 (GRCm39)	H372Q		Het
Camkk2	G	T	5: 122,880,275 (GRCm39)	T447K	possibly damaging	Het
Car2	A	G	3: 14,965,130 (GRCm39)	I255V	probably benign	Het
Cdhr1	A	T	14: 36,803,502 (GRCm39)	S525T	probably benign	Het
Col24a1	T	C	3: 145,019,901 (GRCm39)	Y91H	probably benign	Het
Cryba1	C	A	11: 77,613,434 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,313,366 (GRCm39)	E1348K		Het
Dcst1	A	G	3: 89,260,068 (GRCm39)	L592P	probably damaging	Het
Ddx17	A	G	15: 79,421,723 (GRCm39)	I334T	probably damaging	Het
Dspp	A	T	5: 104,323,259 (GRCm39)	N134I	probably damaging	Het
Eif4g3	T	C	4: 137,873,665 (GRCm39)	V535A	probably benign	Het
Erc1	T	C	6: 119,690,732 (GRCm39)	E847G	possibly damaging	Het
Fancc	A	G	13: 63,508,056 (GRCm39)	S160P	possibly damaging	Het
Fndc9	C	T	11: 46,129,138 (GRCm39)	A219V	probably damaging	Het
Ifitm1	G	A	7: 140,548,282 (GRCm39)	W38*	probably null	Het
Iqch	A	G	9: 63,329,002 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,522 (GRCm39)	R170G	possibly damaging	Het
Lama4	T	C	10: 38,902,747 (GRCm39)		probably null	Het
Lrrc18	A	G	14: 32,730,973 (GRCm39)	K171E	probably damaging	Het
Magi1	A	G	6: 93,659,927 (GRCm39)	S1007P	probably benign	Het
Muc16	T	A	9: 18,549,789 (GRCm39)	L5501F	possibly damaging	Het
Nrxn2	A	G	19: 6,581,736 (GRCm39)	N1557S	probably benign	Het
Or5g25	A	T	2: 85,477,794 (GRCm39)	Y290*	probably null	Het
Ovgp1	A	G	3: 105,894,110 (GRCm39)	T628A	unknown	Het
Pld5	A	T	1: 175,872,480 (GRCm39)	L219Q	probably damaging	Het
Rabggta	G	A	14: 55,956,969 (GRCm39)	T273I	probably benign	Het
Rnf208	A	G	2: 25,133,912 (GRCm39)	D202G	probably damaging	Het
Sacs	A	G	14: 61,441,040 (GRCm39)	N1029D	not run	Het
Sema6b	T	A	17: 56,438,555 (GRCm39)	I114F	probably damaging	Het
Sgpp1	A	G	12: 75,769,451 (GRCm39)	I239T	probably damaging	Het
Slc12a3	A	G	8: 95,071,515 (GRCm39)	N638S	probably damaging	Het
Smc3	T	C	19: 53,629,390 (GRCm39)	S948P	probably benign	Het
Snx24	T	A	18: 53,522,623 (GRCm39)	H159Q	probably benign	Het
Sycp2	G	T	2: 178,022,651 (GRCm39)	N493K	probably damaging	Het
Tiam2	A	G	17: 3,559,685 (GRCm39)	D1242G	probably damaging	Het
Triobp	G	T	15: 78,858,204 (GRCm39)	R1268S	probably benign	Het
Wdr12	T	C	1: 60,136,753 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,340,325 (GRCm39)	S855R	probably benign	Het
Zscan20	T	A	4: 128,479,599 (GRCm39)	H964L	probably damaging	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
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
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'- TACCTGAATCGCACCTTCG -3'
(R):5'- TCTTGAAGGGAGCAGTAAGC -3'

Sequencing Primer
(F):5'- CGTCTTTCAAATGTCTGCTGAG -3'
(R):5'- CGCTGGAGAGATGATTCACTG -3'

Posted On

2020-06-10