Mutagenetix > Incidental Mutation

Incidental Mutation 'R9169:Add1'

696246

Institutional Source

Beutler Lab

Gene Symbol

Add1

Ensembl Gene

ENSMUSG00000029106

Gene Name

adducin 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R9169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34731008-34789652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34788122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 724 (S724T)

Ref Sequence

ENSEMBL: ENSMUSP00000109979 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000114340
AA Change: S724T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106
AA Change: S724T

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: 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

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: 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: 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: 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: 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

Meta Mutation Damage Score

0.3823

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	T	7: 41,261,109 (GRCm39)		probably benign	Het
9330182O14Rik	A	T	15: 40,005,632 (GRCm39)	K17*	probably null	Het
Adamtsl3	A	C	7: 82,223,188 (GRCm39)	I990L	probably damaging	Het
Afdn	A	G	17: 14,072,627 (GRCm39)	N865S	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ap1m2	T	A	9: 21,223,523 (GRCm39)	I8F	probably benign	Het
Atp8a1	T	C	5: 67,824,944 (GRCm39)	T811A		Het
Axin2	A	G	11: 108,822,378 (GRCm39)	D310G	probably damaging	Het
Bin1	T	G	18: 32,562,251 (GRCm39)	F379L	possibly damaging	Het
Bin2	C	A	15: 100,554,631 (GRCm39)	S91I	possibly damaging	Het
Birc5	A	G	11: 117,743,599 (GRCm39)	N111S	probably benign	Het
Blk	T	A	14: 63,620,130 (GRCm39)	N137Y	probably damaging	Het
Cacna1d	G	A	14: 29,796,873 (GRCm39)	A1534V	probably damaging	Het
Cacna2d1	T	C	5: 16,451,757 (GRCm39)	V207A	probably damaging	Het
Ccr3	A	G	9: 123,828,949 (GRCm39)	I95V	probably benign	Het
Celsr2	T	C	3: 108,309,862 (GRCm39)	D1579G	probably benign	Het
Cfap36	C	A	11: 29,196,541 (GRCm39)	K19N	probably benign	Het
Cfap52	C	T	11: 67,844,860 (GRCm39)	V70M	possibly damaging	Het
Chid1	A	T	7: 141,093,722 (GRCm39)	I298N	probably damaging	Het
Clstn1	G	T	4: 149,731,322 (GRCm39)	R888L	possibly damaging	Het
Col6a5	T	A	9: 105,822,596 (GRCm39)	T254S	unknown	Het
Coro6	C	T	11: 77,359,329 (GRCm39)	P301S	probably damaging	Het
Cstdc2	A	G	2: 148,692,589 (GRCm39)		probably null	Het
Dchs1	T	C	7: 105,422,114 (GRCm39)	D102G	probably damaging	Het
Dnah14	T	C	1: 181,433,381 (GRCm39)	F353L	probably benign	Het
Dnajc10	A	T	2: 80,163,315 (GRCm39)	I344L	probably benign	Het
Dst	T	C	1: 34,303,652 (GRCm39)	V4026A	probably damaging	Het
Exo1	A	G	1: 175,715,203 (GRCm39)	E114G	possibly damaging	Het
Fabp7	A	G	10: 57,662,439 (GRCm39)	I109V	probably benign	Het
Fars2	T	C	13: 36,416,109 (GRCm39)	F206S	probably damaging	Het
Gbp8	C	T	5: 105,179,155 (GRCm39)	A115T	possibly damaging	Het
Gm17067	T	C	7: 42,357,627 (GRCm39)	T292A	probably benign	Het
Gp2	T	C	7: 119,041,929 (GRCm39)	D532G	probably benign	Het
Gtf2i	C	A	5: 134,271,534 (GRCm39)	A917S	probably damaging	Het
Guca1b	A	G	17: 47,702,827 (GRCm39)	E169G	possibly damaging	Het
Hdac1	A	T	4: 129,428,499 (GRCm39)	Y24N	probably damaging	Het
Hepacam	T	C	9: 37,293,693 (GRCm39)	F251L	probably damaging	Het
Hmcn1	G	T	1: 150,506,092 (GRCm39)	N3811K	probably damaging	Het
Htra4	A	T	8: 25,520,133 (GRCm39)	M391K	probably damaging	Het
Ino80d	T	C	1: 63,097,930 (GRCm39)	T760A	probably benign	Het
Ints1	T	G	5: 139,748,586 (GRCm39)	T1074P	probably benign	Het
Itga6	A	T	2: 71,647,015 (GRCm39)	Q75L	possibly damaging	Het
Mapk14	A	C	17: 28,960,814 (GRCm39)	N272T	probably benign	Het
Meikin	A	T	11: 54,285,517 (GRCm39)	T185S	possibly damaging	Het
Moxd2	C	T	6: 40,860,490 (GRCm39)	G318D	possibly damaging	Het
Mtmr3	G	A	11: 4,437,739 (GRCm39)	T905I	probably benign	Het
Muc16	A	G	9: 18,567,824 (GRCm39)	I1565T	unknown	Het
Myh14	A	G	7: 44,271,281 (GRCm39)	S1500P	possibly damaging	Het
Nfkb1	T	C	3: 135,310,874 (GRCm39)	E475G	probably benign	Het
Ngef	C	A	1: 87,473,581 (GRCm39)	R67L	probably benign	Het
Olr1	T	C	6: 129,470,528 (GRCm39)	E213G	probably damaging	Het
Or13c3	T	A	4: 52,856,052 (GRCm39)	I154F	probably damaging	Het
Or5b124	A	G	19: 13,610,903 (GRCm39)	I143V	probably benign	Het
Or8g21	A	G	9: 38,906,573 (GRCm39)	S53P	probably benign	Het
Or9r3	A	C	10: 129,947,723 (GRCm39)	I312R	probably benign	Het
Pcdhga3	C	T	18: 37,809,088 (GRCm39)	L514F	probably damaging	Het
Pcnt	A	G	10: 76,221,572 (GRCm39)	M2018T	possibly damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3ca	T	C	3: 32,503,755 (GRCm39)		probably null	Het
Psapl1	A	G	5: 36,362,880 (GRCm39)	S491G	possibly damaging	Het
Psmf1	A	T	2: 151,577,457 (GRCm39)	D73E	probably benign	Het
Ptprcap	A	G	19: 4,206,358 (GRCm39)	D147G	probably benign	Het
Ramacl	T	C	13: 67,056,063 (GRCm39)	F19L	probably damaging	Het
Rdh8	T	A	9: 20,736,935 (GRCm39)	V309E	possibly damaging	Het
Rhobtb3	T	A	13: 76,041,121 (GRCm39)	T396S	probably benign	Het
Rpa1	A	T	11: 75,200,999 (GRCm39)	L475*	probably null	Het
Rtkn	T	A	6: 83,129,190 (GRCm39)	S562T	probably damaging	Het
Saxo5	A	T	8: 3,525,967 (GRCm39)	Y40F	possibly damaging	Het
Scamp1	C	T	13: 94,389,533 (GRCm39)	D35N	probably benign	Het
Scarb1	C	T	5: 125,371,146 (GRCm39)	A309T	probably damaging	Het
Scube1	G	A	15: 83,543,298 (GRCm39)	T180M	possibly damaging	Het
Sez6	T	G	11: 77,868,473 (GRCm39)	F945V	probably damaging	Het
Sf3a1	C	T	11: 4,116,681 (GRCm39)	T124M	probably benign	Het
Smchd1	T	C	17: 71,722,659 (GRCm39)	K759E	probably damaging	Het
Sort1	C	A	3: 108,247,994 (GRCm39)	C446*	probably null	Het
Sun1	T	A	5: 139,219,273 (GRCm39)	S360T	probably benign	Het
Supv3l1	A	G	10: 62,268,238 (GRCm39)	F536L	probably damaging	Het
Taar6	A	C	10: 23,861,273 (GRCm39)	V91G	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Thoc2l	T	A	5: 104,666,348 (GRCm39)	L290H	probably damaging	Het
Tmc2	T	A	2: 130,083,516 (GRCm39)	I491N	probably damaging	Het
Trmt112	T	C	19: 6,888,187 (GRCm39)	I113T	probably damaging	Het
Ttc14	C	T	3: 33,857,071 (GRCm39)	Q183*	probably null	Het
Txndc16	T	A	14: 45,373,385 (GRCm39)	D748V	probably damaging	Het
Xkr6	A	G	14: 63,844,067 (GRCm39)	D30G	possibly damaging	Het
Zc3h14	C	T	12: 98,745,505 (GRCm39)	S498L	probably damaging	Het
Zc3h7b	A	C	15: 81,661,184 (GRCm39)	D341A	probably benign	Het
Zfp108	T	A	7: 23,960,923 (GRCm39)	C505S	probably damaging	Het
Zfp354c	A	C	11: 50,706,088 (GRCm39)	L329R	probably damaging	Het
Zfyve16	T	A	13: 92,657,871 (GRCm39)	D680V	probably damaging	Het
Znfx1	A	G	2: 166,897,185 (GRCm39)	F580L	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
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
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'- AGAAGCACTTGCCTTCCCAG -3'
(R):5'- CAGGGGCTGACTATACATGG -3'

Sequencing Primer
(F):5'- ACTTGCCTTCCCAGCAGTGG -3'
(R):5'- CTATACATGGGAGGGGGCTC -3'

Posted On

2022-02-07