Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Add1'

76109

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 #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

34731008-34789652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34787859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 210 (T210I)

Ref Sequence

ENSEMBL: ENSMUSP00000144673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000052836] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000137506] [ENSMUST00000149657] [ENSMUST00000134156] [ENSMUST00000137150] [ENSMUST00000126257] [ENSMUST00000201810] [ENSMUST00000155577] [ENSMUST00000201147] [ENSMUST00000202378]

AlphaFold

Q9QYC0

Predicted Effect

probably benign
Transcript: ENSMUST00000001108

SMART Domains

Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106

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 benign
Transcript: ENSMUST00000001109

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.9e-41	PFAM
Pfam:Sugar_tr	62	235	7.9e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052836

SMART Domains

Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106

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 benign
Transcript: ENSMUST00000114329

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114331

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114335

SMART Domains

Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106

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 benign
Transcript: ENSMUST00000114338

SMART Domains

Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106

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: T636I

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

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: T636I

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

noncoding transcript
Transcript: ENSMUST00000136010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151247

Predicted Effect

probably benign
Transcript: ENSMUST00000152805

SMART Domains

Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	95	127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137506

SMART Domains

Protein: ENSMUSP00000144121
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	31	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149657

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	261	1.3e-26	PFAM
Pfam:Sugar_tr	71	228	9.3e-10	PFAM
Pfam:TRI12	76	232	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134156

SMART Domains

Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137150

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126257

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	139	5.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201810
AA Change: T210I

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

SMART Domains

Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106
AA Change: T210I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200717

Predicted Effect

probably benign
Transcript: ENSMUST00000155577

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	269	1.1e-27	PFAM
Pfam:Sugar_tr	71	228	9.6e-10	PFAM
Pfam:TRI12	76	232	3.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201147

SMART Domains

Protein: ENSMUSP00000144239
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
low complexity region	80	95	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202065

Predicted Effect

probably benign
Transcript: ENSMUST00000202378

SMART Domains

Protein: ENSMUSP00000144117
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
transmembrane domain	24	43	N/A	INTRINSIC
transmembrane domain	96	118	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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Gde1	A	G	7: 118,288,383 (GRCm39)		probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Kiss1r	A	G	10: 79,754,658 (GRCm39)	T51A	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Plekho2	G	T	9: 65,465,912 (GRCm39)	H159N	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Rbm15	A	G	3: 107,238,326 (GRCm39)	S691P	probably damaging	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Thbs2	T	C	17: 14,910,327 (GRCm39)	K91E	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Add1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Add1	APN	5	34,770,702 (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

2013-10-07