Mutagenetix > Incidental Mutation

Incidental Mutation 'R2965:Add1'

256009

Institutional Source

Beutler Lab

Gene Symbol

Add1

Ensembl Gene

ENSMUSG00000029106

Gene Name

adducin 1

Synonyms

MMRRC Submission

040521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R2965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34731008-34789652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34788058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 702 (D702E)

Ref Sequence

ENSEMBL: ENSMUSP00000109979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000052836] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000137150] [ENSMUST00000137506] [ENSMUST00000149657] [ENSMUST00000126257] [ENSMUST00000134156] [ENSMUST00000155577] [ENSMUST00000201810] [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 benign
Transcript: ENSMUST00000114340
AA Change: D702E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: D702E

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: ENSMUST00000137262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136010

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: 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: 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 benign
Transcript: ENSMUST00000134156

SMART Domains

Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	19	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: ENSMUST00000201810

SMART Domains

Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106

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

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: 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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Aff3	A	G	1: 38,248,791 (GRCm39)	I772T	probably damaging	Het
Ankar	T	C	1: 72,714,979 (GRCm39)	I382V	probably benign	Het
Anks1	A	G	17: 28,272,879 (GRCm39)	T925A	probably benign	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Atp8a1	T	C	5: 67,805,049 (GRCm39)	D1022G	probably benign	Het
Cep250	A	G	2: 155,836,798 (GRCm39)	K2256E	probably benign	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Cntln	T	C	4: 84,892,264 (GRCm39)		probably null	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Col2a1	A	G	15: 97,873,976 (GRCm39)	I1402T	unknown	Het
Col4a3	T	C	1: 82,626,321 (GRCm39)	L86P	unknown	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Ddx43	C	A	9: 78,313,661 (GRCm39)	Y197*	probably null	Het
Dnah7b	T	A	1: 46,246,732 (GRCm39)	I1636N	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Dyrk2	T	A	10: 118,696,242 (GRCm39)	K339*	probably null	Het
Fam187b	A	C	7: 30,677,154 (GRCm39)	D221A	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fgd6	T	A	10: 93,880,056 (GRCm39)	F303L	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gm10784	A	T	13: 50,099,233 (GRCm39)		noncoding transcript	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gria1	C	T	11: 57,076,627 (GRCm39)	Q8*	probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Ice1	A	T	13: 70,750,697 (GRCm39)	D1796E	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Klhl2	C	T	8: 65,205,794 (GRCm39)	V376M	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mgam	T	C	6: 40,745,154 (GRCm39)	V1807A	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Mycbp2	A	G	14: 103,534,794 (GRCm39)	V304A	probably benign	Het
Nek10	T	C	14: 14,836,202 (GRCm38)	L141P	probably damaging	Het
Noa1	T	C	5: 77,454,191 (GRCm39)	E483G	possibly damaging	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pkd1l1	T	A	11: 8,824,236 (GRCm39)	S1110C	probably damaging	Het
Potefam1	A	T	2: 111,034,364 (GRCm39)	S359T	possibly damaging	Het
Ppp4r4	T	C	12: 103,579,080 (GRCm39)	S873P	probably damaging	Het
Prss35	A	G	9: 86,637,635 (GRCm39)	D135G	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rab21	T	C	10: 115,130,814 (GRCm39)	N164S	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Ssrp1	A	G	2: 84,871,930 (GRCm39)	T385A	possibly damaging	Het
Tcf15	T	C	2: 151,985,871 (GRCm39)	I109T	probably damaging	Het
Tcp11	C	A	17: 28,288,239 (GRCm39)	D330Y	probably benign	Het
Tktl2	T	A	8: 66,964,715 (GRCm39)	V91E	probably benign	Het
Usp48	G	A	4: 137,341,073 (GRCm39)	V358M	probably damaging	Het
Vmn1r228	A	G	17: 20,996,609 (GRCm39)	I303T	probably damaging	Het
Zfp229	T	G	17: 21,965,010 (GRCm39)	H413Q	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGATGCCACCACCTTCAAGC -3'
(R):5'- TCCATTACACAGGAGGATAGAAC -3'

Sequencing Primer
(F):5'- CTGACCTCTCCCCTGATGAG -3'
(R):5'- TTACACAGGAGGATAGAACACAAGAC -3'

Posted On

2014-12-29