Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Slc30a1'

368202

Institutional Source

Beutler Lab

Gene Symbol

Slc30a1

Ensembl Gene

ENSMUSG00000037434

Gene Name

solute carrier family 30 (zinc transporter), member 1

Synonyms

Znt1, C130040I11Rik

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4067 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

191638879-191645359 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 191639401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 95 (A95P)

Ref Sequence

ENSEMBL: ENSMUSP00000042410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044954] [ENSMUST00000161756]

AlphaFold

Q60738

Predicted Effect

probably damaging
Transcript: ENSMUST00000044954
AA Change: A95P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: A95P

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	11	278	7.3e-43	PFAM
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069573

SMART Domains

Protein: ENSMUSP00000063209
Gene: ENSMUSG00000055833

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139827

SMART Domains

Protein: ENSMUSP00000136990
Gene: ENSMUSG00000055833

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161756
AA Change: A12P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124176
Gene: ENSMUSG00000037434
AA Change: A12P

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	1	119	1.5e-17	PFAM

Meta Mutation Damage Score

0.4060

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality soon after implantation with embryonic growth arrest at the egg cylinder stage. Embryos from heterozygous females on a zinc deficient diet develop abnormally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,769,150 (GRCm39)	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,406,641 (GRCm39)	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,005,320 (GRCm39)	N2527S	probably damaging	Het
Ak1	G	A	2: 32,519,593 (GRCm39)	S7N	probably benign	Het
Aktip	A	C	8: 91,852,466 (GRCm39)	I230R	possibly damaging	Het
Alms1	A	G	6: 85,598,271 (GRCm39)	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651 (GRCm39)	V266E	probably damaging	Het
Bace1	G	A	9: 45,765,962 (GRCm39)	V130M	probably damaging	Het
Bglap	A	T	3: 88,291,744 (GRCm39)		probably benign	Het
Brpf3	T	C	17: 29,040,233 (GRCm39)	S885P	probably benign	Het
Chd9	A	T	8: 91,750,202 (GRCm39)	I1742F	possibly damaging	Het
Col9a2	T	A	4: 120,909,586 (GRCm39)	I415N	probably damaging	Het
Cybc1	A	T	11: 121,115,528 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Enam	A	G	5: 88,651,236 (GRCm39)	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,425,442 (GRCm39)	C416S	probably damaging	Het
Fgf20	A	T	8: 40,732,896 (GRCm39)	S181T	probably benign	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gcn1	T	G	5: 115,737,147 (GRCm39)	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm9989	T	C	3: 81,829,549 (GRCm39)		noncoding transcript	Het
Gsdmc4	A	T	15: 63,765,736 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,198,772 (GRCm39)		noncoding transcript	Het
Ighv10-1	A	T	12: 114,442,643 (GRCm39)	M114K	probably benign	Het
Il22b	T	C	10: 118,126,115 (GRCm39)	I161V	probably damaging	Het
Itfg2	T	A	6: 128,387,413 (GRCm39)		probably benign	Het
Kirrel1	G	A	3: 86,995,774 (GRCm39)	Q387*	probably null	Het
Klk1	C	T	7: 43,876,968 (GRCm39)	R24*	probably null	Het
Klra7	T	C	6: 130,208,612 (GRCm39)		probably null	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mrps2	A	G	2: 28,359,782 (GRCm39)	N213S	probably benign	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,167,185 (GRCm39)	Y102F	probably damaging	Het
Or8k24	A	T	2: 86,216,431 (GRCm39)	C110*	probably null	Het
Otof	C	T	5: 30,556,635 (GRCm39)	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,430,367 (GRCm39)		probably null	Het
Pign	A	T	1: 105,515,703 (GRCm39)		probably null	Het
Plekha6	G	A	1: 133,222,416 (GRCm39)	E1001K	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Pudp	A	G	18: 50,701,329 (GRCm39)	F135L	probably benign	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Rel	A	C	11: 23,703,215 (GRCm39)		probably null	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Slc47a2	T	C	11: 61,194,773 (GRCm39)	T469A	probably benign	Het
Slc4a10	A	T	2: 61,876,989 (GRCm39)	M1L	probably benign	Het
Slc8a1	T	A	17: 81,955,703 (GRCm39)	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,071,793 (GRCm39)	G113R	probably damaging	Het
Spata31e5	T	A	1: 28,816,712 (GRCm39)	D440V	probably damaging	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stk26	A	G	X: 49,977,910 (GRCm39)	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355 (GRCm39)	Y506*	probably null	Het
Trhde	T	A	10: 114,280,585 (GRCm39)	R848*	probably null	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Usp24	C	T	4: 106,216,286 (GRCm39)	T379M	possibly damaging	Het
Zfp783	A	T	6: 47,922,499 (GRCm39)		noncoding transcript	Het

Other mutations in Slc30a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Slc30a1	APN	1	191,641,191 (GRCm39)	missense	probably damaging	1.00
IGL01863:Slc30a1	APN	1	191,641,196 (GRCm39)	missense	probably damaging	1.00
IGL02451:Slc30a1	APN	1	191,639,441 (GRCm39)	missense	possibly damaging	0.95
R0416:Slc30a1	UTSW	1	191,641,838 (GRCm39)	missense	probably benign	0.23
R0610:Slc30a1	UTSW	1	191,641,536 (GRCm39)	missense	probably damaging	1.00
R2513:Slc30a1	UTSW	1	191,639,674 (GRCm39)	missense	possibly damaging	0.93
R4782:Slc30a1	UTSW	1	191,641,160 (GRCm39)	missense	probably benign	0.24
R5359:Slc30a1	UTSW	1	191,641,865 (GRCm39)	makesense	probably null
R5473:Slc30a1	UTSW	1	191,641,734 (GRCm39)	missense	possibly damaging	0.88
R5790:Slc30a1	UTSW	1	191,640,997 (GRCm39)	missense	probably benign	0.00
R5984:Slc30a1	UTSW	1	191,639,212 (GRCm39)	missense	probably damaging	1.00
R7282:Slc30a1	UTSW	1	191,641,544 (GRCm39)	missense	probably benign	0.08
R7955:Slc30a1	UTSW	1	191,639,395 (GRCm39)	missense	probably damaging	1.00
R9127:Slc30a1	UTSW	1	191,639,342 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc30a1	UTSW	1	191,639,639 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTTCATGTTCATGGTGCTGG -3'
(R):5'- AATTGCTGGTGTTGGCCAC -3'

Sequencing Primer
(F):5'- GTCGCTCGCCATGCTGTC -3'
(R):5'- TTGGCCACCAGCGTGTTG -3'

Posted On

2015-12-30