Mutagenetix > Incidental Mutation

Incidental Mutation 'R9125:Asz1'

693180

Institutional Source

Beutler Lab

Gene Symbol

Asz1

Ensembl Gene

ENSMUSG00000010796

Gene Name

ankyrin repeat, SAM and basic leucine zipper domain containing 1

Synonyms

ORF3, Gasz, 4933400N19Rik

MMRRC Submission

068925-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R9125 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

18050963-18109060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18054561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 414 (E414G)

Ref Sequence

ENSEMBL: ENSMUSP00000010940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010940]

AlphaFold

Q8VD46

Predicted Effect

probably benign
Transcript: ENSMUST00000010940
AA Change: E414G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
AA Change: E414G

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ANK	45	74	4.86e1	SMART
ANK	78	107	4.03e-5	SMART
ANK	110	144	2.3e0	SMART
ANK	148	177	3.46e-4	SMART
ANK	181	210	1.05e-3	SMART
SAM	271	336	5.64e-3	SMART
Blast:ANK	385	414	5e-10	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (64/66)

MGI Phenotype

PHENOTYPE: Homozygous null male mice are sterile resulting from a block in spermatid development [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	A	17: 84,976,425 (GRCm39)	H471Y	probably damaging	Het
Adam3	A	G	8: 25,213,517 (GRCm39)	L61P	probably damaging	Het
Ank2	T	A	3: 126,733,744 (GRCm39)	D622V	probably damaging	Het
Antxr2	G	A	5: 98,151,973 (GRCm39)	S166F	probably damaging	Het
Asph	C	T	4: 9,474,928 (GRCm39)	G682D	possibly damaging	Het
Cabp2	G	A	19: 4,135,597 (GRCm39)	D96N	probably damaging	Het
Cc2d2a	T	A	5: 43,860,563 (GRCm39)	D546E	probably benign	Het
Cdca2	T	A	14: 67,917,762 (GRCm39)	R545S	probably benign	Het
Chrna7	G	A	7: 62,757,357 (GRCm39)	Q181*	probably null	Het
Cib1	T	C	7: 79,877,751 (GRCm39)	D182G	probably damaging	Het
Cib4	T	C	5: 30,655,477 (GRCm39)	H76R	probably benign	Het
Cop1	T	G	1: 159,067,187 (GRCm39)	F157V	probably damaging	Het
Cspg4b	C	T	13: 113,505,374 (GRCm39)	P2168S		Het
Dap3	T	A	3: 88,837,861 (GRCm39)	T130S	probably benign	Het
Ddb2	T	A	2: 91,064,593 (GRCm39)	K106*	probably null	Het
Derl3	G	A	10: 75,730,443 (GRCm39)	V169I	probably benign	Het
Dusp6	T	A	10: 99,102,074 (GRCm39)	C353*	probably null	Het
Efcab3	A	T	11: 104,736,360 (GRCm39)	D2110V	probably damaging	Het
Fry	A	G	5: 150,269,525 (GRCm39)	N217S	probably damaging	Het
Gabrb2	A	G	11: 42,482,693 (GRCm39)	T184A	probably damaging	Het
Gfpt1	G	A	6: 87,053,248 (GRCm39)	V403I	probably benign	Het
Gm7276	A	G	18: 77,273,147 (GRCm39)	S196P	unknown	Het
Grik1	T	A	16: 87,852,956 (GRCm39)	T76S		Het
Hrnr	A	G	3: 93,238,863 (GRCm39)	N3034D	unknown	Het
Kmt2c	T	C	5: 25,489,194 (GRCm39)	T4582A	possibly damaging	Het
Mroh9	T	C	1: 162,875,412 (GRCm39)	I496V	probably benign	Het
Muc3a	A	G	5: 137,245,210 (GRCm39)	L115P	probably damaging	Het
Nfe2	A	G	15: 103,157,871 (GRCm39)	L40P	probably damaging	Het
Nipsnap3b	A	T	4: 53,021,177 (GRCm39)	D216V	probably damaging	Het
Or5d14	C	T	2: 87,880,294 (GRCm39)	V225M	probably damaging	Het
Or8b49	T	A	9: 38,506,108 (GRCm39)	I197K	probably damaging	Het
Otx1	G	A	11: 21,949,458 (GRCm39)	Q7*	probably null	Het
Piezo2	A	G	18: 63,178,589 (GRCm39)	I1776T	probably benign	Het
Pira12	T	A	7: 3,900,021 (GRCm39)	I194L	possibly damaging	Het
Ppp1r37	T	C	7: 19,269,014 (GRCm39)	D162G	probably benign	Het
Ppp4c	T	A	7: 126,386,739 (GRCm39)	E116V	probably damaging	Het
Pramel17	A	G	4: 101,694,073 (GRCm39)	V270A	probably benign	Het
Prorp	A	T	12: 55,355,611 (GRCm39)	D372V	possibly damaging	Het
Psme2	T	A	14: 55,828,302 (GRCm39)	K15N	possibly damaging	Het
Retreg1	C	T	15: 25,968,618 (GRCm39)	R125C	probably damaging	Het
Rgs16	A	G	1: 153,617,874 (GRCm39)	E128G	probably null	Het
Rnf145	G	T	11: 44,450,819 (GRCm39)	R381L	probably damaging	Het
Rnf2	T	C	1: 151,347,433 (GRCm39)	K289E	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,669,292 (GRCm39)	V3504A	probably benign	Het
Selp	T	A	1: 163,951,356 (GRCm39)	I30N	probably benign	Het
Serpinb5	C	T	1: 106,798,137 (GRCm39)	A42V	probably benign	Het
Sfpq	G	A	4: 126,915,633 (GRCm39)	G142S	unknown	Het
Sh2d1b2	T	C	1: 170,075,751 (GRCm39)	Y62H	possibly damaging	Het
Sipa1l3	C	T	7: 29,086,656 (GRCm39)	E645K	probably damaging	Het
Slc22a1	T	A	17: 12,878,598 (GRCm39)	T372S	probably benign	Het
Smarca2	T	A	19: 26,693,583 (GRCm39)	D1262E	possibly damaging	Het
Speer4a3	T	C	5: 26,156,596 (GRCm39)	M128V	possibly damaging	Het
Sptbn2	A	T	19: 4,784,241 (GRCm39)	Q661L	probably benign	Het
Tarbp1	G	T	8: 127,174,202 (GRCm39)	T868K	possibly damaging	Het
Tnfrsf8	A	G	4: 145,023,531 (GRCm39)	S101P	probably damaging	Het
Tnfsf10	A	C	3: 27,380,028 (GRCm39)		probably benign	Het
Tsc2	C	T	17: 24,823,802 (GRCm39)	R1001K	probably null	Het
Unc80	T	A	1: 66,718,740 (GRCm39)	S2988T	probably benign	Het
Vmn1r195	A	G	13: 22,463,335 (GRCm39)	I268M	possibly damaging	Het
Vmn1r27	G	A	6: 58,192,416 (GRCm39)	T196I	probably benign	Het
Vmn2r80	T	A	10: 78,984,760 (GRCm39)	D37E	probably benign	Het
Vmn2r9	A	T	5: 108,996,047 (GRCm39)	H200Q		Het
Washc5	T	C	15: 59,209,134 (GRCm39)	Y1030C	probably damaging	Het
Wdr47	T	C	3: 108,526,106 (GRCm39)	F210L	probably damaging	Het
Wscd2	C	A	5: 113,715,417 (GRCm39)	A419E	probably benign	Het

Other mutations in Asz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Asz1	APN	6	18,055,541 (GRCm39)	critical splice acceptor site	probably null
IGL02691:Asz1	APN	6	18,076,556 (GRCm39)	missense	probably damaging	1.00
IGL02958:Asz1	APN	6	18,073,813 (GRCm39)	missense	possibly damaging	0.92
IGL03116:Asz1	APN	6	18,076,642 (GRCm39)	splice site	probably benign
H9600:Asz1	UTSW	6	18,055,424 (GRCm39)	splice site	probably benign
R0331:Asz1	UTSW	6	18,103,618 (GRCm39)	splice site	probably benign
R3441:Asz1	UTSW	6	18,108,405 (GRCm39)	missense	probably benign	0.06
R3896:Asz1	UTSW	6	18,075,766 (GRCm39)	missense	probably benign	0.17
R4596:Asz1	UTSW	6	18,103,592 (GRCm39)	missense	possibly damaging	0.82
R4683:Asz1	UTSW	6	18,055,541 (GRCm39)	critical splice acceptor site	probably benign
R5304:Asz1	UTSW	6	18,076,619 (GRCm39)	missense	probably benign	0.11
R5869:Asz1	UTSW	6	18,074,939 (GRCm39)	unclassified	probably benign
R6550:Asz1	UTSW	6	18,051,380 (GRCm39)	missense	probably damaging	0.96
R6672:Asz1	UTSW	6	18,075,817 (GRCm39)	missense	possibly damaging	0.92
R6850:Asz1	UTSW	6	18,108,942 (GRCm39)	missense	probably benign	0.00
R6894:Asz1	UTSW	6	18,055,520 (GRCm39)	missense	probably damaging	1.00
R7092:Asz1	UTSW	6	18,071,818 (GRCm39)	splice site	probably null
R7388:Asz1	UTSW	6	18,074,900 (GRCm39)	missense	probably benign	0.04
R7608:Asz1	UTSW	6	18,077,252 (GRCm39)	missense	probably damaging	1.00
R7885:Asz1	UTSW	6	18,104,876 (GRCm39)	missense	probably damaging	1.00
R7994:Asz1	UTSW	6	18,054,640 (GRCm39)	missense	probably benign	0.04
R8913:Asz1	UTSW	6	18,054,570 (GRCm39)	missense	probably benign	0.00
R8985:Asz1	UTSW	6	18,051,336 (GRCm39)	missense	probably benign	0.00
R9123:Asz1	UTSW	6	18,054,561 (GRCm39)	missense	probably benign	0.00
R9287:Asz1	UTSW	6	18,051,290 (GRCm39)	missense	possibly damaging	0.91
R9288:Asz1	UTSW	6	18,051,368 (GRCm39)	missense	possibly damaging	0.54
R9393:Asz1	UTSW	6	18,051,330 (GRCm39)	missense	probably benign	0.01
X0054:Asz1	UTSW	6	18,055,480 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTGTCTTTGTTAAAACTGCC -3'
(R):5'- AACTGTTAGGAGACCCAAGTG -3'

Sequencing Primer
(F):5'- GTCTTTGTTAAAACTGCCTGACC -3'
(R):5'- TTTGCCTGTTTTGTCTACACTATAG -3'

Posted On

2022-01-20