Mutagenetix > Incidental Mutation

Incidental Mutation 'R6906:Anp32a'

538783

Institutional Source

Beutler Lab

Gene Symbol

Anp32a

Ensembl Gene

ENSMUSG00000032249

Gene Name

acidic nuclear phosphoprotein 32 family member A

Synonyms

pp32, Anp32

MMRRC Submission

044998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62248637-62286084 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 62284851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085519] [ENSMUST00000128636] [ENSMUST00000135395]

AlphaFold

O35381

Predicted Effect

unknown
Transcript: ENSMUST00000085519
AA Change: Q233R

SMART Domains

Protein: ENSMUSP00000082652
Gene: ENSMUSG00000032249
AA Change: Q233R

Domain	Start	End	E-Value	Type
Pfam:LRR_4	64	107	5.2e-9	PFAM
Pfam:LRR_8	64	125	1.9e-9	PFAM
LRRcap	128	146	3.19e-2	SMART
coiled coil region	167	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128636

SMART Domains

Protein: ENSMUSP00000123574
Gene: ENSMUSG00000032249

Domain	Start	End	E-Value	Type
Pfam:LRR_8	67	128	3.1e-10	PFAM
Pfam:LRR_4	77	111	3e-8	PFAM
Pfam:LRR_6	90	110	7.2e-6	PFAM
Pfam:LRR_7	91	107	9.5e-4	PFAM
Pfam:LRR_1	92	115	1.7e-4	PFAM
LRRcap	131	149	3.19e-2	SMART
coiled coil region	170	198	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000135395
AA Change: Q219R

SMART Domains

Protein: ENSMUSP00000122165
Gene: ENSMUSG00000032249
AA Change: Q219R

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	111	4.9e-10	PFAM
Pfam:LRR_6	73	93	9e-6	PFAM
Pfam:LRR_7	74	90	1.2e-3	PFAM
Pfam:LRR_1	75	98	2.2e-4	PFAM
LRRcap	114	132	3.19e-2	SMART
coiled coil region	153	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156461

SMART Domains

Protein: ENSMUSP00000115293
Gene: ENSMUSG00000032249

Domain	Start	End	E-Value	Type
Pfam:LRR_9	5	138	8e-13	PFAM
Pfam:LRR_4	60	104	9.7e-10	PFAM
Pfam:LRR_8	60	121	8.6e-10	PFAM
Pfam:LRR_4	84	129	2.8e-9	PFAM
Pfam:LRR_1	85	106	1.4e-3	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (45/46)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice are viable, fertile, behaviorally normal, and show no defects of the central nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	A	G	5: 24,773,840 (GRCm39)	F350L	possibly damaging	Het
Ahnak2	T	A	12: 112,748,933 (GRCm39)	T305S	probably benign	Het
Aplf	A	G	6: 87,607,068 (GRCm39)	S449P	possibly damaging	Het
Arl6ip4	A	G	5: 124,254,614 (GRCm39)	R36G	possibly damaging	Het
Ascc1	G	A	10: 59,840,674 (GRCm39)	D12N	probably benign	Het
Bin1	C	A	18: 32,554,978 (GRCm39)	H243Q	probably benign	Het
Ccdc168	C	T	1: 44,095,173 (GRCm39)	S1975N	probably benign	Het
Ccdc7a	C	A	8: 129,662,162 (GRCm39)	V547L	unknown	Het
Cntnap5c	T	A	17: 58,702,302 (GRCm39)	N1207K	probably benign	Het
Coro7	C	A	16: 4,451,168 (GRCm39)	R507L	probably benign	Het
Crtap	T	A	9: 114,210,700 (GRCm39)	K291N	probably benign	Het
Csmd3	T	C	15: 47,710,569 (GRCm39)	T1569A	probably benign	Het
Dmrta1	A	G	4: 89,580,203 (GRCm39)	T388A	probably benign	Het
Ehd3	T	C	17: 74,137,333 (GRCm39)	F501L	probably damaging	Het
Fbn2	A	C	18: 58,204,891 (GRCm39)	L1184R	possibly damaging	Het
Fhip1b	G	A	7: 105,037,476 (GRCm39)	T369I	probably damaging	Het
Hsf1	T	C	15: 76,361,919 (GRCm39)		probably null	Het
Hycc1	A	T	5: 24,204,956 (GRCm39)	W12R	probably damaging	Het
Kansl1l	T	C	1: 66,762,437 (GRCm39)	H810R	possibly damaging	Het
Lrp5	A	T	19: 3,672,638 (GRCm39)	I557N	probably damaging	Het
Lypd1	T	C	1: 125,838,196 (GRCm39)	E41G	probably damaging	Het
Mgam	A	G	6: 40,724,853 (GRCm39)	Y443C	probably damaging	Het
Muc2	A	G	7: 141,284,976 (GRCm39)	D871G	probably damaging	Het
Nup85	T	A	11: 115,471,769 (GRCm39)	Y198N	probably damaging	Het
Obscn	T	A	11: 58,923,744 (GRCm39)	M6578L	possibly damaging	Het
Or8h7	T	C	2: 86,721,091 (GRCm39)	T143A	probably benign	Het
Osbpl5	G	C	7: 143,248,065 (GRCm39)	Q667E	probably damaging	Het
Ovgp1	T	A	3: 105,894,189 (GRCm39)		probably benign	Het
Prl8a2	T	A	13: 27,532,900 (GRCm39)	N37K	probably benign	Het
Ptprf	A	T	4: 118,126,474 (GRCm39)	I93N	possibly damaging	Het
Rnf112	T	C	11: 61,341,215 (GRCm39)	S457G	probably null	Het
Sema3e	A	G	5: 14,290,601 (GRCm39)	D562G	probably damaging	Het
Sesn3	A	G	9: 14,236,937 (GRCm39)	M472V	probably damaging	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Shc3	T	C	13: 51,620,595 (GRCm39)	T144A	probably damaging	Het
Sis	A	G	3: 72,826,818 (GRCm39)	L1287P	probably damaging	Het
Srrm2	C	T	17: 24,039,337 (GRCm39)	P2090S	probably damaging	Het
Syne2	T	G	12: 76,042,760 (GRCm39)	D3910E	possibly damaging	Het
Tcaim	C	T	9: 122,663,839 (GRCm39)	T443I	probably benign	Het
Tex19.1	T	C	11: 121,037,948 (GRCm39)	V102A	probably benign	Het
Tpd52l1	T	G	10: 31,208,950 (GRCm39)	T168P	possibly damaging	Het
Trdn	G	A	10: 33,109,944 (GRCm39)	C294Y	probably benign	Het
Trmt1l	T	C	1: 151,327,926 (GRCm39)	Y479H	probably benign	Het
Vmn1r171	G	A	7: 23,331,804 (GRCm39)	V10I	probably benign	Het
Zbtb41	T	A	1: 139,351,128 (GRCm39)	D80E	possibly damaging	Het
Zcchc4	A	G	5: 52,980,976 (GRCm39)	K473E	possibly damaging	Het

Other mutations in Anp32a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Anp32a	APN	9	62,278,994 (GRCm39)	splice site	probably benign
IGL01799:Anp32a	APN	9	62,279,092 (GRCm39)	missense	probably benign	0.06
IGL02066:Anp32a	APN	9	62,284,615 (GRCm39)	unclassified	probably benign
IGL02536:Anp32a	APN	9	62,279,110 (GRCm39)	missense	probably damaging	0.98
R1608:Anp32a	UTSW	9	62,279,375 (GRCm39)	missense	probably damaging	0.99
R2149:Anp32a	UTSW	9	62,279,084 (GRCm39)	missense	probably benign	0.19
R5287:Anp32a	UTSW	9	62,249,275 (GRCm39)	missense	possibly damaging	0.50
R5381:Anp32a	UTSW	9	62,279,459 (GRCm39)	missense	probably damaging	0.97
R5403:Anp32a	UTSW	9	62,249,275 (GRCm39)	missense	possibly damaging	0.50
R5427:Anp32a	UTSW	9	62,284,598 (GRCm39)	unclassified	probably benign
R6856:Anp32a	UTSW	9	62,279,397 (GRCm39)	missense	possibly damaging	0.95
R7949:Anp32a	UTSW	9	62,280,948 (GRCm39)	missense	unknown
R8134:Anp32a	UTSW	9	62,284,863 (GRCm39)	missense	unknown
R9501:Anp32a	UTSW	9	62,282,019 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTTTGCCCCTAGGAGGATG -3'
(R):5'- TCCTTCCCACAGCAATGCTA -3'

Sequencing Primer
(F):5'- TGGCAGCCTGACCCCTTTG -3'
(R):5'- TTCCCACAGCAATGCTACAATCAG -3'

Posted On

2018-11-06