Mutagenetix > Incidental Mutation

Incidental Mutation 'R4806:Acd'

370684

Institutional Source

Beutler Lab

Gene Symbol

Acd

Ensembl Gene

ENSMUSG00000038000

Gene Name

adrenocortical dysplasia

Synonyms

MMRRC Submission

042425-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R4806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106424789-106427748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106424922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000048180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042608] [ENSMUST00000062574] [ENSMUST00000093195] [ENSMUST00000098444] [ENSMUST00000211870] [ENSMUST00000211888] [ENSMUST00000212352] [ENSMUST00000213019] [ENSMUST00000212430] [ENSMUST00000212650] [ENSMUST00000212642]

AlphaFold

Q5EE38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042608
AA Change: V406A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048180
Gene: ENSMUSG00000038000
AA Change: V406A

Domain	Start	End	E-Value	Type
Pfam:TPP1	11	118	2.4e-23	PFAM
low complexity region	259	272	N/A	INTRINSIC
low complexity region	296	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062574

SMART Domains

Protein: ENSMUSP00000052322
Gene: ENSMUSG00000050357

Domain	Start	End	E-Value	Type
Pfam:CARMIL_C	149	442	3.3e-62	PFAM
low complexity region	467	484	N/A	INTRINSIC
low complexity region	631	659	N/A	INTRINSIC
low complexity region	696	727	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093195

SMART Domains

Protein: ENSMUSP00000090886
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	15	95	2.81e-15	SMART
PDZ	167	250	1.38e-12	SMART
low complexity region	263	286	N/A	INTRINSIC
low complexity region	309	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098444

SMART Domains

Protein: ENSMUSP00000096043
Gene: ENSMUSG00000005699

Domain	Start	End	E-Value	Type
PB1	4	79	1.28e-9	SMART
PDZ	151	234	1.38e-12	SMART
low complexity region	247	270	N/A	INTRINSIC
low complexity region	293	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000211870

Predicted Effect

probably benign
Transcript: ENSMUST00000211888

Predicted Effect

probably benign
Transcript: ENSMUST00000212352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212643

Predicted Effect

probably benign
Transcript: ENSMUST00000213019

Predicted Effect

probably benign
Transcript: ENSMUST00000212430

Predicted Effect

probably benign
Transcript: ENSMUST00000212650

Predicted Effect

probably benign
Transcript: ENSMUST00000212642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212687

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,265,070 (GRCm39)		probably null	Het
2410137M14Rik	T	A	17: 37,289,746 (GRCm39)	H28L	probably benign	Het
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Acin1	A	T	14: 54,916,685 (GRCm39)		probably benign	Het
Agbl4	T	C	4: 110,812,834 (GRCm39)	V118A	probably damaging	Het
Arhgap5	A	G	12: 52,565,486 (GRCm39)	D819G	probably damaging	Het
BC049715	A	T	6: 136,816,927 (GRCm39)	I56F	possibly damaging	Het
C1rb	A	T	6: 124,551,908 (GRCm39)	Q270L	probably benign	Het
Cadps2	C	T	6: 23,688,859 (GRCm39)	R121Q	probably damaging	Het
Cd84	A	G	1: 171,679,688 (GRCm39)	Y122C	probably benign	Het
Cklf	C	A	8: 104,984,067 (GRCm39)	P77T	probably damaging	Het
Clrn2	T	C	5: 45,611,346 (GRCm39)	L65P	probably damaging	Het
Csde1	TCCTCGACCT	TCCT	3: 102,963,685 (GRCm39)		probably benign	Het
Csf2rb2	T	C	15: 78,169,490 (GRCm39)	D446G	probably benign	Het
Csmd3	T	C	15: 48,177,464 (GRCm39)	E358G	probably benign	Het
Dmkn	C	T	7: 30,470,667 (GRCm39)	T385I	possibly damaging	Het
Dnah10	A	G	5: 124,896,408 (GRCm39)	T3591A	probably damaging	Het
Dpp9	A	G	17: 56,497,030 (GRCm39)	L734P	probably damaging	Het
Edem2	A	G	2: 155,570,913 (GRCm39)	V39A	possibly damaging	Het
Glmp	A	C	3: 88,233,320 (GRCm39)		probably benign	Het
Gm20775	T	C	Y: 10,641,885 (GRCm39)		noncoding transcript	Het
Gpr179	T	G	11: 97,240,610 (GRCm39)	D271A	possibly damaging	Het
Gtf2ird1	A	G	5: 134,412,750 (GRCm39)	V587A	probably damaging	Het
Igfn1	T	A	1: 135,895,095 (GRCm39)	T1824S	probably benign	Het
Ighmbp2	A	T	19: 3,311,589 (GRCm39)	I942N	probably damaging	Het
Ints2	A	G	11: 86,147,035 (GRCm39)	L37P	probably benign	Het
Irgq	T	A	7: 24,233,470 (GRCm39)	L437Q	probably damaging	Het
Kcnq4	A	T	4: 120,570,291 (GRCm39)	W351R	probably damaging	Het
Kif3b	G	A	2: 153,162,288 (GRCm39)	A500T	probably damaging	Het
Lpp	A	G	16: 24,480,430 (GRCm39)	D66G	probably damaging	Het
Mapkap1	G	A	2: 34,487,434 (GRCm39)		probably null	Het
Mc4r	T	A	18: 66,992,559 (GRCm39)	I185F	probably damaging	Het
Mdga1	T	C	17: 30,061,128 (GRCm39)	D621G	probably benign	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Myh11	A	T	16: 14,018,947 (GRCm39)		probably null	Het
Naip1	G	A	13: 100,562,129 (GRCm39)	A1012V	probably benign	Het
Ntn4	C	T	10: 93,480,362 (GRCm39)	R29C	probably damaging	Het
Plb1	G	A	5: 32,447,196 (GRCm39)	G321D	probably damaging	Het
Plxnd1	A	G	6: 115,937,816 (GRCm39)	V1510A	probably damaging	Het
Polr1e	T	A	4: 45,024,482 (GRCm39)	M131K	probably benign	Het
Prdm10	T	A	9: 31,241,237 (GRCm39)	*342R	probably null	Het
Prex2	T	C	1: 11,138,244 (GRCm39)	F108L	probably damaging	Het
Psmg2	T	A	18: 67,781,992 (GRCm39)	I186N	probably benign	Het
Ros1	T	A	10: 51,972,271 (GRCm39)	E1614D	probably damaging	Het
Sin3a	G	A	9: 56,994,026 (GRCm39)	V44M	probably damaging	Het
Slco1a1	G	A	6: 141,854,735 (GRCm39)	L639F	possibly damaging	Het
Smr2	T	G	5: 88,246,289 (GRCm39)	L101*	probably null	Het
Spata31d1b	C	T	13: 59,863,535 (GRCm39)	P228S	probably benign	Het
Stat5b	G	T	11: 100,681,623 (GRCm39)	H544N	probably benign	Het
Syk	A	T	13: 52,786,963 (GRCm39)	Y319F	probably benign	Het
Tln2	G	T	9: 67,239,015 (GRCm39)	T1087K	probably benign	Het
Tsc22d1	A	G	14: 76,654,428 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,169 (GRCm39)	T657S	probably damaging	Het
Vmn2r63	A	T	7: 42,576,314 (GRCm39)	S500T	probably benign	Het
Vps45	A	C	3: 95,953,725 (GRCm39)	V209G	probably benign	Het
Xrcc1	C	A	7: 24,269,905 (GRCm39)	A442E	probably benign	Het
Ythdc1	T	A	5: 86,970,704 (GRCm39)	V430E	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp422	A	T	6: 116,603,623 (GRCm39)	N125K	probably damaging	Het
Zfp53	T	A	17: 21,725,263 (GRCm39)	D58E	possibly damaging	Het
Zfp707	C	T	15: 75,845,000 (GRCm39)	Q66*	probably null	Het

Other mutations in Acd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Acd	APN	8	106,425,086 (GRCm39)	missense	probably damaging	1.00
IGL02322:Acd	APN	8	106,425,268 (GRCm39)	missense	probably benign	0.04
R0613:Acd	UTSW	8	106,427,200 (GRCm39)	splice site	probably null
R1750:Acd	UTSW	8	106,425,524 (GRCm39)	missense	possibly damaging	0.93
R1824:Acd	UTSW	8	106,427,122 (GRCm39)	missense	probably damaging	1.00
R1870:Acd	UTSW	8	106,425,039 (GRCm39)	critical splice donor site	probably null
R2888:Acd	UTSW	8	106,425,470 (GRCm39)	missense	probably benign	0.08
R2945:Acd	UTSW	8	106,426,927 (GRCm39)	nonsense	probably null
R3001:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R3002:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R3003:Acd	UTSW	8	106,426,913 (GRCm39)	critical splice donor site	probably null
R4795:Acd	UTSW	8	106,427,647 (GRCm39)	missense	possibly damaging	0.92
R6111:Acd	UTSW	8	106,424,919 (GRCm39)	missense	probably benign	0.04
R6236:Acd	UTSW	8	106,427,127 (GRCm39)	missense	probably benign	0.01
R7096:Acd	UTSW	8	106,425,121 (GRCm39)	missense	possibly damaging	0.52
R8677:Acd	UTSW	8	106,427,576 (GRCm39)	missense	probably damaging	1.00
R8995:Acd	UTSW	8	106,427,131 (GRCm39)	missense	probably damaging	1.00
R9272:Acd	UTSW	8	106,424,952 (GRCm39)	missense	probably damaging	1.00
R9307:Acd	UTSW	8	106,425,514 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TAACCCTTCACAGGCTCTGG -3'
(R):5'- AGTATAAATACGAGACACCCTCTGC -3'

Sequencing Primer
(F):5'- GAACCCTCCAGCCCTGAG -3'
(R):5'- GAGACACCCTCTGCCTCCC -3'

Posted On

2016-02-04