Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00781:Add1'

13286

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Add1

Ensembl Gene

ENSMUSG00000029106

Gene Name

adducin 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

IGL00781

Quality Score

Status

Chromosome

Chromosomal Location

34731008-34789652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34770702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 271 (H271R)

Ref Sequence

ENSEMBL: ENSMUSP00000109979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000052836] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000135321] [ENSMUST00000201810]

AlphaFold

Q9QYC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000001108
AA Change: H271R

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

SMART Domains

Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106
AA Change: H271R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	599	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000052836
AA Change: H271R

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

SMART Domains

Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106
AA Change: H271R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	599	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114335
AA Change: H271R

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

SMART Domains

Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106
AA Change: H271R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	597	629	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114338
AA Change: H271R

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

SMART Domains

Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106
AA Change: H271R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114340
AA Change: H271R

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

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: H271R

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC
low complexity region	666	685	N/A	INTRINSIC
low complexity region	698	719	N/A	INTRINSIC
low complexity region	727	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144226

Predicted Effect

probably benign
Transcript: ENSMUST00000201810

SMART Domains

Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	142	174	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). Adducin is a heterodimeric protein that consists of related subunits, which are produced from distinct genes but share a similar structure. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Alpha- and gamma-adducins are ubiquitously expressed. In contrast, beta-adducin is expressed at high levels in brain and hematopoietic tissues. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. Alternative splicing results in multiple variants encoding distinct isoforms; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted gene deletion leads to reduced growth and compensated hemolytic anemia. RBCs are osmotically fragile, dehydrated, and spherocytic with severe loss of membrane surface area and reduced MCV. ~50% of homozygotes develop lethal hydrocephaly with dilation of the lateral, 3rd, and 4th ventricles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	A	G	10: 106,801,887 (GRCm39)	S489P	probably benign	Het
Adam8	A	T	7: 139,567,158 (GRCm39)	N431K	probably damaging	Het
Adgrv1	G	A	13: 81,726,349 (GRCm39)	L559F	probably benign	Het
Cdk17	A	G	10: 93,068,278 (GRCm39)	Y312C	probably damaging	Het
Cemip	A	G	7: 83,596,488 (GRCm39)	I1092T	possibly damaging	Het
Col20a1	G	T	2: 180,645,272 (GRCm39)	V885F	possibly damaging	Het
Dcc	A	G	18: 71,942,266 (GRCm39)	S284P	probably benign	Het
Ercc4	T	C	16: 12,943,233 (GRCm39)	V284A	possibly damaging	Het
Fam184b	A	T	5: 45,712,534 (GRCm39)		probably null	Het
Fbln7	G	A	2: 128,735,771 (GRCm39)	R253Q	possibly damaging	Het
Gfm2	T	C	13: 97,285,847 (GRCm39)	F112S	probably damaging	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Madd	T	C	2: 90,977,273 (GRCm39)	I1385V	probably benign	Het
Pkn3	C	A	2: 29,973,402 (GRCm39)		probably benign	Het
Sppl2a	T	A	2: 126,761,640 (GRCm39)	N288I	probably benign	Het
St14	A	G	9: 31,015,075 (GRCm39)	S308P	probably damaging	Het
Syne2	C	A	12: 76,070,836 (GRCm39)	P4430T	probably benign	Het
Taf6l	C	T	19: 8,751,025 (GRCm39)	G43D	probably damaging	Het
Trim11	T	C	11: 58,881,523 (GRCm39)	L472P	probably benign	Het
Usp2	C	T	9: 44,000,462 (GRCm39)	R284*	probably null	Het

Other mutations in Add1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01370:Add1	APN	5	34,787,859 (GRCm39)	missense	probably damaging	1.00
IGL01670:Add1	APN	5	34,777,407 (GRCm39)	missense	probably damaging	1.00
IGL02965:Add1	APN	5	34,777,467 (GRCm39)	missense	probably damaging	0.99
IGL03178:Add1	APN	5	34,771,589 (GRCm39)	splice site	probably null
R0126:Add1	UTSW	5	34,770,923 (GRCm39)	missense	probably benign	0.04
R0189:Add1	UTSW	5	34,773,992 (GRCm39)	missense	probably benign	0.01
R0195:Add1	UTSW	5	34,767,990 (GRCm39)	unclassified	probably benign
R0318:Add1	UTSW	5	34,782,684 (GRCm39)	missense	probably damaging	0.99
R0605:Add1	UTSW	5	34,771,568 (GRCm39)	missense	possibly damaging	0.87
R0624:Add1	UTSW	5	34,763,197 (GRCm39)	missense	probably damaging	1.00
R1514:Add1	UTSW	5	34,767,961 (GRCm39)	missense	probably benign	0.03
R1573:Add1	UTSW	5	34,758,740 (GRCm39)	missense	possibly damaging	0.89
R2512:Add1	UTSW	5	34,774,030 (GRCm39)	missense	probably benign	0.02
R2965:Add1	UTSW	5	34,788,058 (GRCm39)	missense	probably benign	0.00
R2966:Add1	UTSW	5	34,788,058 (GRCm39)	missense	probably benign	0.00
R5646:Add1	UTSW	5	34,788,024 (GRCm39)	missense	probably benign	0.10
R5993:Add1	UTSW	5	34,758,877 (GRCm39)	missense	probably damaging	1.00
R6356:Add1	UTSW	5	34,776,740 (GRCm39)	missense	probably null	1.00
R6514:Add1	UTSW	5	34,763,317 (GRCm39)	missense	probably damaging	1.00
R6536:Add1	UTSW	5	34,758,780 (GRCm39)	missense	possibly damaging	0.89
R6659:Add1	UTSW	5	34,770,639 (GRCm39)	missense	possibly damaging	0.94
R7326:Add1	UTSW	5	34,776,715 (GRCm39)	missense	probably benign	0.32
R7473:Add1	UTSW	5	34,776,697 (GRCm39)	missense	possibly damaging	0.84
R8177:Add1	UTSW	5	34,774,049 (GRCm39)	missense	possibly damaging	0.77
R9084:Add1	UTSW	5	34,763,186 (GRCm39)	missense	probably damaging	1.00
R9100:Add1	UTSW	5	34,770,622 (GRCm39)	unclassified	probably benign
R9169:Add1	UTSW	5	34,788,122 (GRCm39)	missense	possibly damaging	0.94
R9436:Add1	UTSW	5	34,763,273 (GRCm39)	nonsense	probably null
Z1088:Add1	UTSW	5	34,770,744 (GRCm39)	nonsense	probably null

Posted On

2012-12-06