Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Anxa11'

676944

Institutional Source

Beutler Lab

Gene Symbol

Anxa11

Ensembl Gene

ENSMUSG00000021866

Gene Name

annexin A11

Synonyms

A830099O17Rik, Anx11

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25842580-25887228 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25874687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 233 (R233C)

Ref Sequence

ENSEMBL: ENSMUSP00000022416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022416] [ENSMUST00000112364]

AlphaFold

P97384

Predicted Effect

probably damaging
Transcript: ENSMUST00000022416
AA Change: R233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: R233C

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	73	175	N/A	INTRINSIC
ANX	215	267	7.18e-25	SMART
ANX	287	339	7.57e-24	SMART
ANX	371	423	1.35e-20	SMART
ANX	446	498	1.89e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112364
AA Change: R233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: R233C

Domain	Start	End	E-Value	Type
low complexity region	3	31	N/A	INTRINSIC
low complexity region	73	175	N/A	INTRINSIC
ANX	215	267	7.18e-25	SMART
ANX	287	339	7.57e-24	SMART
Pfam:Annexin	357	392	1.2e-9	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	probably damaging	Het

Other mutations in Anxa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Anxa11	APN	14	25,870,553 (GRCm39)	missense	unknown
twirl	UTSW	14	25,873,158 (GRCm39)	missense	unknown
R0597:Anxa11	UTSW	14	25,874,652 (GRCm39)	missense	probably damaging	1.00
R0656:Anxa11	UTSW	14	25,874,421 (GRCm39)	missense	probably damaging	1.00
R0717:Anxa11	UTSW	14	25,875,213 (GRCm39)	splice site	probably null
R1087:Anxa11	UTSW	14	25,870,603 (GRCm39)	missense	unknown
R2207:Anxa11	UTSW	14	25,874,721 (GRCm39)	missense	probably damaging	1.00
R5041:Anxa11	UTSW	14	25,875,188 (GRCm39)	nonsense	probably null
R6298:Anxa11	UTSW	14	25,873,158 (GRCm39)	missense	unknown
R6416:Anxa11	UTSW	14	25,874,694 (GRCm39)	missense	possibly damaging	0.74
R6944:Anxa11	UTSW	14	25,875,176 (GRCm39)	missense	probably damaging	0.99
R7389:Anxa11	UTSW	14	25,873,312 (GRCm39)	missense	probably damaging	0.99
R7760:Anxa11	UTSW	14	25,873,251 (GRCm39)	nonsense	probably null
X0005:Anxa11	UTSW	14	25,874,714 (GRCm39)	missense	probably benign	0.03
Z1177:Anxa11	UTSW	14	25,870,600 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTAAGAGAGCAGACTGACTCC -3'
(R):5'- GGCTTATCTTGGCAAACCTACC -3'

Sequencing Primer
(F):5'- TGCAGGTCACTGTGTAGGCC -3'
(R):5'- CCTAACTAAGCTCATGGTCATCCTGG -3'

Posted On

2021-07-15