Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Anxa10'

538535

Institutional Source

Beutler Lab

Gene Symbol

Anxa10

Ensembl Gene

ENSMUSG00000031635

Gene Name

annexin A10

Synonyms

MMRRC Submission

044995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62510076-62576184 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62549816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 10 (T10A)

Ref Sequence

ENSEMBL: ENSMUSP00000034054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034052] [ENSMUST00000034054]

AlphaFold

Q9QZ10

Predicted Effect

probably damaging
Transcript: ENSMUST00000034052
AA Change: T10A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034052
Gene: ENSMUSG00000031635
AA Change: T10A

Domain	Start	End	E-Value	Type
ANX	34	86	6.71e-16	SMART
ANX	106	158	8.13e-15	SMART
ANX	198	241	5.48e-2	SMART
ANX	264	316	6.51e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000034054
AA Change: T10A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034054
Gene: ENSMUSG00000031635
AA Change: T10A

Domain	Start	End	E-Value	Type
ANX	34	86	6.71e-16	SMART
ANX	106	161	2.38e-1	SMART
ANX	178	221	5.48e-2	SMART
ANX	244	296	6.51e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Litter sizes from crosses of females that are either homozygous or heterozygous for a null allele contain fewer pups than wild-type females, indicating a dominant maternal effect on embryonic lethality. Embryos of homozygous null females die between E4.5 and E12.5. [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
Abhd5	T	A	9: 122,197,220 (GRCm39)	S136T	probably benign	Het
Ap3b1	A	G	13: 94,554,650 (GRCm39)	E262G	probably benign	Het
Ap3b2	T	C	7: 81,134,660 (GRCm39)		probably null	Het
Arhgef40	A	G	14: 52,234,825 (GRCm39)	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,250,232 (GRCm39)	S328T	probably benign	Het
Arid4a	A	G	12: 71,113,911 (GRCm39)	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,872 (GRCm39)	I571V	probably benign	Het
Cdh4	G	A	2: 179,501,987 (GRCm39)	V316I	probably benign	Het
Cebpg	A	T	7: 34,750,202 (GRCm39)	H20Q	probably benign	Het
Ces4a	G	A	8: 105,873,330 (GRCm39)	V392I	probably benign	Het
CN725425	C	A	15: 91,124,966 (GRCm39)	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,058,703 (GRCm39)	F243S	probably damaging	Het
Dkk2	T	A	3: 131,880,887 (GRCm39)		probably null	Het
Dync2h1	A	G	9: 7,131,855 (GRCm39)	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 27,884,542 (GRCm39)	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,561,427 (GRCm39)	V85A	probably benign	Het
Etv6	A	G	6: 134,243,421 (GRCm39)	E392G	probably benign	Het
Fli1	T	A	9: 32,341,221 (GRCm39)	N202I	probably benign	Het
Gpc6	G	T	14: 118,188,629 (GRCm39)	R421L	possibly damaging	Het
Gse1	A	G	8: 120,956,561 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,089 (GRCm39)	E360G	probably benign	Het
Hnrnpab	T	C	11: 51,492,675 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,756,190 (GRCm39)	E136G	probably damaging	Het
Ift56	G	A	6: 38,378,079 (GRCm39)	R297H	possibly damaging	Het
Kcna3	C	T	3: 106,943,884 (GRCm39)	A49V	probably benign	Het
Krt42	C	T	11: 100,160,542 (GRCm39)	M52I	probably benign	Het
Lyrm4	A	T	13: 36,301,107 (GRCm39)	Y13N	probably damaging	Het
Map2	C	T	1: 66,460,932 (GRCm39)	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,409,065 (GRCm39)	P817T	possibly damaging	Het
Map3k12	G	T	15: 102,409,064 (GRCm39)	P817Q	possibly damaging	Het
Masp1	T	C	16: 23,332,584 (GRCm39)	K84E	probably damaging	Het
Mki67	A	T	7: 135,310,489 (GRCm39)		probably null	Het
Mrap	C	G	16: 90,546,193 (GRCm39)	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,154,779 (GRCm39)	C986F	probably damaging	Het
Nbea	A	C	3: 55,926,836 (GRCm39)	M789R	probably damaging	Het
Or2ag1b	T	C	7: 106,288,396 (GRCm39)	I181V	probably benign	Het
Or6b2	G	T	1: 92,408,327 (GRCm39)	N5K	probably damaging	Het
Pde4a	A	G	9: 21,116,266 (GRCm39)	N475S	probably benign	Het
Pex7	C	T	10: 19,736,740 (GRCm39)	V297I	probably benign	Het
Pkd1l3	A	T	8: 110,341,246 (GRCm39)	H33L	unknown	Het
Prl8a6	A	T	13: 27,621,030 (GRCm39)	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,075,322 (GRCm39)	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,903,944 (GRCm39)	S64R	probably damaging	Het
Snx7	G	A	3: 117,623,285 (GRCm39)	Q292*	probably null	Het
Tgm3	C	T	2: 129,883,890 (GRCm39)	T516M	possibly damaging	Het
Trim9	T	C	12: 70,393,413 (GRCm39)	E177G	probably damaging	Het
Ttc28	C	A	5: 111,424,891 (GRCm39)	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,927,735 (GRCm39)	L202H	probably damaging	Het
Ttll13	T	C	7: 79,899,930 (GRCm39)	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496 (GRCm39)	I286S	probably benign	Het
Ubxn11	G	A	4: 133,853,575 (GRCm39)	A125T	probably damaging	Het
Vmn1r48	A	G	6: 90,013,550 (GRCm39)	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,581,368 (GRCm39)	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,313,880 (GRCm39)	T696I	probably benign	Het
Zfp266	G	T	9: 20,410,895 (GRCm39)	Y427*	probably null	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,523,585 (GRCm39)	N123S	probably benign	Het
Zfp936	T	A	7: 42,839,467 (GRCm39)	H311Q	probably damaging	Het

Other mutations in Anxa10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Anxa10	APN	8	62,529,348 (GRCm39)	missense	probably damaging	1.00
IGL03354:Anxa10	APN	8	62,549,778 (GRCm39)	missense	probably damaging	1.00
R0687:Anxa10	UTSW	8	62,545,606 (GRCm39)	missense	possibly damaging	0.69
R0826:Anxa10	UTSW	8	62,529,318 (GRCm39)	nonsense	probably null
R0883:Anxa10	UTSW	8	62,531,001 (GRCm39)	missense	probably benign	0.40
R0945:Anxa10	UTSW	8	62,513,279 (GRCm39)	splice site	probably benign
R1124:Anxa10	UTSW	8	62,514,038 (GRCm39)	splice site	probably null
R1647:Anxa10	UTSW	8	62,545,618 (GRCm39)	missense	probably damaging	1.00
R2877:Anxa10	UTSW	8	62,513,373 (GRCm39)	missense	probably damaging	1.00
R3706:Anxa10	UTSW	8	62,517,321 (GRCm39)	missense	probably damaging	1.00
R4677:Anxa10	UTSW	8	62,516,054 (GRCm39)	missense	probably damaging	1.00
R5109:Anxa10	UTSW	8	62,516,093 (GRCm39)	missense	possibly damaging	0.91
R5554:Anxa10	UTSW	8	62,514,080 (GRCm39)	missense	possibly damaging	0.93
R5971:Anxa10	UTSW	8	62,530,960 (GRCm39)	missense	probably benign	0.00
R6079:Anxa10	UTSW	8	62,530,960 (GRCm39)	missense	probably benign	0.00
R6134:Anxa10	UTSW	8	62,530,977 (GRCm39)	missense	probably damaging	1.00
R6857:Anxa10	UTSW	8	62,514,051 (GRCm39)	missense	probably benign	0.19
R7428:Anxa10	UTSW	8	62,545,543 (GRCm39)	missense	probably benign	0.01
R8683:Anxa10	UTSW	8	62,510,825 (GRCm39)	missense	probably damaging	1.00
R8920:Anxa10	UTSW	8	62,527,580 (GRCm39)	missense	probably benign	0.00
R9276:Anxa10	UTSW	8	62,549,753 (GRCm39)	missense	probably damaging	1.00
R9500:Anxa10	UTSW	8	62,545,545 (GRCm39)	missense	probably benign	0.00
Z1088:Anxa10	UTSW	8	62,545,540 (GRCm39)	missense	probably damaging	0.97
Z1176:Anxa10	UTSW	8	62,516,104 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAAACCTTAGTTAACACTCATGAT -3'
(R):5'- ACGCTCAATCAATTCAGCTTTCTATA -3'

Sequencing Primer
(F):5'- AGCATACCTTGGAGCATTGAGTC -3'
(R):5'- ACACACAACTATGTCATGTC -3'

Posted On

2018-11-06