Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Slc30a9'

676967

Institutional Source

Beutler Lab

Gene Symbol

Slc30a9

Ensembl Gene

ENSMUSG00000029221

Gene Name

solute carrier family 30 (zinc transporter), member 9

Synonyms

GAC63, 2310024J23Rik

MMRRC Submission

068750-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67464298-67513485 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 67473044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 43 (E43*)

Ref Sequence

ENSEMBL: ENSMUSP00000124047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113676] [ENSMUST00000162372] [ENSMUST00000202521]

AlphaFold

Q5IRJ6

Predicted Effect

probably null
Transcript: ENSMUST00000113676
AA Change: E43*

SMART Domains

Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
AA Change: E43*

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
PDB:2ENK\|A	103	196	2e-54	PDB
SCOP:d1d4ua1	106	174	3e-28	SMART
Pfam:Cation_efflux	219	547	1.6e-41	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162372
AA Change: E43*

SMART Domains

Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
AA Change: E43*

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
PDB:2ENK\|A	123	216	2e-54	PDB
SCOP:d1d4ua1	126	194	5e-28	SMART
Pfam:Cation_efflux	239	449	1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000200734
AA Change: E1*

Predicted Effect

probably benign
Transcript: ENSMUST00000202521

Predicted Effect

probably benign
Transcript: ENSMUST00000202770

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hinfp	A	G	9: 44,209,629 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Jrk	A	G	15: 74,579,004 (GRCm39)	Y94H	probably damaging	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or1e1f	T	G	11: 73,855,940 (GRCm39)	C169G	probably damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Star	T	C	8: 26,302,897 (GRCm39)	S280P	probably benign	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tbx19	C	T	1: 164,966,780 (GRCm39)	V365M	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	Het

Other mutations in Slc30a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Slc30a9	APN	5	67,499,452 (GRCm39)	missense	probably damaging	1.00
IGL00975:Slc30a9	APN	5	67,507,169 (GRCm39)	missense	probably damaging	1.00
IGL01129:Slc30a9	APN	5	67,499,486 (GRCm39)	missense	probably damaging	1.00
IGL01377:Slc30a9	APN	5	67,473,173 (GRCm39)	missense	probably benign
IGL01785:Slc30a9	APN	5	67,503,581 (GRCm39)	splice site	probably benign
IGL01786:Slc30a9	APN	5	67,503,581 (GRCm39)	splice site	probably benign
IGL02407:Slc30a9	APN	5	67,510,065 (GRCm39)	missense	probably damaging	1.00
IGL03185:Slc30a9	APN	5	67,490,406 (GRCm39)	missense	probably benign
IGL03276:Slc30a9	APN	5	67,507,260 (GRCm39)	splice site	probably benign
IGL03380:Slc30a9	APN	5	67,473,054 (GRCm39)	missense	probably benign	0.04
ANU74:Slc30a9	UTSW	5	67,507,195 (GRCm39)	missense	probably damaging	1.00
R0539:Slc30a9	UTSW	5	67,491,953 (GRCm39)	missense	probably damaging	1.00
R1401:Slc30a9	UTSW	5	67,510,005 (GRCm39)	missense	probably benign
R1554:Slc30a9	UTSW	5	67,484,264 (GRCm39)	missense	probably damaging	1.00
R1824:Slc30a9	UTSW	5	67,505,395 (GRCm39)	missense	probably damaging	1.00
R2029:Slc30a9	UTSW	5	67,497,318 (GRCm39)	nonsense	probably null
R4385:Slc30a9	UTSW	5	67,473,110 (GRCm39)	missense	probably damaging	1.00
R4704:Slc30a9	UTSW	5	67,499,616 (GRCm39)	intron	probably benign
R4868:Slc30a9	UTSW	5	67,482,026 (GRCm39)	missense	probably benign
R4907:Slc30a9	UTSW	5	67,503,505 (GRCm39)	missense	probably damaging	1.00
R5553:Slc30a9	UTSW	5	67,502,947 (GRCm39)	splice site	probably null
R6002:Slc30a9	UTSW	5	67,499,460 (GRCm39)	missense	probably damaging	1.00
R6477:Slc30a9	UTSW	5	67,485,867 (GRCm39)	missense	probably benign	0.01
R6718:Slc30a9	UTSW	5	67,490,443 (GRCm39)	missense	probably damaging	1.00
R7113:Slc30a9	UTSW	5	67,484,205 (GRCm39)	missense	probably benign	0.17
R7224:Slc30a9	UTSW	5	67,473,044 (GRCm39)	missense	probably benign
R7327:Slc30a9	UTSW	5	67,499,462 (GRCm39)	missense	probably damaging	1.00
R7394:Slc30a9	UTSW	5	67,510,109 (GRCm39)	critical splice donor site	probably null
R7467:Slc30a9	UTSW	5	67,502,987 (GRCm39)	missense	probably benign	0.08
R7514:Slc30a9	UTSW	5	67,505,421 (GRCm39)	missense	possibly damaging	0.68
R8020:Slc30a9	UTSW	5	67,464,376 (GRCm39)	start gained	probably benign
R8299:Slc30a9	UTSW	5	67,484,248 (GRCm39)	missense	probably damaging	1.00
R8336:Slc30a9	UTSW	5	67,473,058 (GRCm39)	nonsense	probably null
R9079:Slc30a9	UTSW	5	67,484,241 (GRCm39)	missense	possibly damaging	0.60
R9365:Slc30a9	UTSW	5	67,507,142 (GRCm39)	missense	probably damaging	1.00
R9431:Slc30a9	UTSW	5	67,505,278 (GRCm39)	missense	probably damaging	1.00
Z1176:Slc30a9	UTSW	5	67,497,301 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTTGTCTCATACCCAGATTC -3'
(R):5'- CAGCCCAGACGGTTTTACAG -3'

Sequencing Primer
(F):5'- GTCTCATACCCAGATTCTGCTATTC -3'
(R):5'- GATGGGACTTTGTCAGCTT -3'

Posted On

2021-07-15