Mutagenetix > Incidental Mutations

Incidental Mutation 'R6416:Anxa11'

517957

Institutional Source

Beutler Lab

Gene Symbol

Anxa11

Ensembl Gene

ENSMUSG00000021866

Gene Name

annexin A11

Synonyms

A830099O17Rik, Anx11

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6416 (G1)

Quality Score

130.008

Status

Validated

Chromosome

Chromosomal Location

25842156-25886804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25874270 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 235 (Q235R)

Ref Sequence

ENSEMBL: ENSMUSP00000107983 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022416
AA Change: Q235R

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
AA Change: Q235R

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

possibly damaging
Transcript: ENSMUST00000112364
AA Change: Q235R

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
AA Change: Q235R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184083

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Tulp1	A	T	17: 28,356,031	*487K	probably null	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly damaging	Het

Other mutations in Anxa11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Anxa11	APN	14	25870129	missense	unknown
twirl	UTSW	14	25872734	missense	unknown
R0597:Anxa11	UTSW	14	25874228	missense	probably damaging	1.00
R0656:Anxa11	UTSW	14	25873997	missense	probably damaging	1.00
R0717:Anxa11	UTSW	14	25874789	splice site	probably null
R1087:Anxa11	UTSW	14	25870179	missense	unknown
R2207:Anxa11	UTSW	14	25874297	missense	probably damaging	1.00
R5041:Anxa11	UTSW	14	25874764	nonsense	probably null
R6298:Anxa11	UTSW	14	25872734	missense	unknown
R6944:Anxa11	UTSW	14	25874752	missense	probably damaging	0.99
R7389:Anxa11	UTSW	14	25872888	missense	probably damaging	0.99
R7760:Anxa11	UTSW	14	25872827	nonsense	probably null
X0005:Anxa11	UTSW	14	25874290	missense	probably benign	0.03
Z1177:Anxa11	UTSW	14	25870176	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTAAGAGAGCAGACTGACTCC -3'
(R):5'- AGGCTTATCTTGGCAAACCTAC -3'

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

Posted On

2018-05-24