Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Ambn'

470792

Institutional Source

Beutler Lab

Gene Symbol

Ambn

Ensembl Gene

ENSMUSG00000029288

Gene Name

ameloblastin

Synonyms

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88455991-88468531 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88467951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 413 (V413A)

Ref Sequence

ENSEMBL: ENSMUSP00000142944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031226] [ENSMUST00000198265]

AlphaFold

O55189

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031226
AA Change: V398A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031226
Gene: ENSMUSG00000029288
AA Change: V398A

Domain	Start	End	E-Value	Type
Amelin	11	407	7.19e-250	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198265
AA Change: V413A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142944
Gene: ENSMUSG00000029288
AA Change: V413A

Domain	Start	End	E-Value	Type
Amelin	11	422	8.22e-268	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: This gene encodes an extracellular matrix glycoprotein that is involved in the formation of dental enamel. Mice lacking the encoded protein fail to undergo normal ameloblast differentiation and develop enamel. Mice overproducing the product of this gene develop thinner and more porous enamel, with disrupted rod patterns and abnormal crystallites. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mice lack enamel and display abnormal ameloblast and tooth morphology and an increased incidence of dental epithelium derived tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046 (GRCm38)		probably benign	Het
Amotl1	T	A	9: 14,596,528 (GRCm38)	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047 (GRCm38)	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502 (GRCm38)	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242 (GRCm38)	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907 (GRCm38)	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744 (GRCm38)	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329 (GRCm38)	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847 (GRCm38)	I104F	unknown	Het
Cry2	A	G	2: 92,412,967 (GRCm38)	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151 (GRCm38)	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993 (GRCm38)	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512 (GRCm38)	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729 (GRCm38)	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281 (GRCm38)	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171 (GRCm38)	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702 (GRCm38)	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201 (GRCm38)	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590 (GRCm38)	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352 (GRCm38)		probably null	Het
Heatr6	G	A	11: 83,753,718 (GRCm38)		probably benign	Het
Kcns2	A	G	15: 34,839,784 (GRCm38)	D431G	probably benign	Het
Kdm3b	A	G	18: 34,829,289 (GRCm38)	N1543D	probably damaging	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271 (GRCm38)	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453 (GRCm38)	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721 (GRCm38)	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491 (GRCm38)	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669 (GRCm38)	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712 (GRCm38)	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456 (GRCm38)	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023 (GRCm38)	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818 (GRCm38)	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147 (GRCm38)	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773 (GRCm38)	L402Q	probably damaging	Het
Pigp	T	A	16: 94,370,194 (GRCm38)		probably null	Het
Rp1	A	G	1: 4,348,462 (GRCm38)	L809P	probably benign	Het
Scn3a	T	A	2: 65,494,781 (GRCm38)		probably benign	Het
Sdf2	A	T	11: 78,246,080 (GRCm38)	M29L	probably benign	Het
Serpina3b	T	G	12: 104,134,091 (GRCm38)	L311V	possibly damaging	Het
Snx31	A	T	15: 36,523,488 (GRCm38)	Y349*	probably null	Het
Spidr	A	C	16: 16,114,869 (GRCm38)	C182W	probably damaging	Het
St13	A	T	15: 81,377,798 (GRCm38)	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582 (GRCm38)	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016 (GRCm38)		probably null	Het
Tcp11l2	T	A	10: 84,594,797 (GRCm38)		probably benign	Het
Tfdp2	C	T	9: 96,317,574 (GRCm38)	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659 (GRCm38)	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322 (GRCm38)	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471 (GRCm38)	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948 (GRCm38)	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366 (GRCm38)	P72T	probably benign	Het

Other mutations in Ambn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Ambn	APN	5	88,459,359 (GRCm38)	missense	probably damaging	0.99
IGL01139:Ambn	APN	5	88,464,517 (GRCm38)	splice site	probably benign
IGL01318:Ambn	APN	5	88,460,695 (GRCm38)	splice site	probably benign
IGL02139:Ambn	APN	5	88,465,290 (GRCm38)	missense	probably benign
IGL02261:Ambn	APN	5	88,456,948 (GRCm38)	missense	probably damaging	1.00
IGL02743:Ambn	APN	5	88,464,484 (GRCm38)	missense	probably damaging	0.99
IGL03329:Ambn	APN	5	88,461,668 (GRCm38)	missense	probably benign	0.34
R0242:Ambn	UTSW	5	88,467,972 (GRCm38)	missense	possibly damaging	0.85
R0242:Ambn	UTSW	5	88,467,972 (GRCm38)	missense	possibly damaging	0.85
R0563:Ambn	UTSW	5	88,463,450 (GRCm38)	missense	probably benign	0.28
R1649:Ambn	UTSW	5	88,464,481 (GRCm38)	missense	probably benign	0.16
R2118:Ambn	UTSW	5	88,460,758 (GRCm38)	splice site	probably benign
R2121:Ambn	UTSW	5	88,460,758 (GRCm38)	splice site	probably benign
R2124:Ambn	UTSW	5	88,460,758 (GRCm38)	splice site	probably benign
R2495:Ambn	UTSW	5	88,467,804 (GRCm38)	missense	probably benign	0.05
R2877:Ambn	UTSW	5	88,460,700 (GRCm38)	splice site	probably benign
R3779:Ambn	UTSW	5	88,465,342 (GRCm38)	splice site	probably benign
R4760:Ambn	UTSW	5	88,467,707 (GRCm38)	missense	probably damaging	1.00
R5422:Ambn	UTSW	5	88,464,511 (GRCm38)	critical splice donor site	probably null
R5755:Ambn	UTSW	5	88,464,491 (GRCm38)	splice site	probably null
R5883:Ambn	UTSW	5	88,467,829 (GRCm38)	nonsense	probably null
R6846:Ambn	UTSW	5	88,461,715 (GRCm38)	missense	possibly damaging	0.65
R7166:Ambn	UTSW	5	88,467,528 (GRCm38)	missense	possibly damaging	0.94
R7500:Ambn	UTSW	5	88,461,634 (GRCm38)	missense	possibly damaging	0.95
R7809:Ambn	UTSW	5	88,467,824 (GRCm38)	missense	probably benign	0.00
R8306:Ambn	UTSW	5	88,459,422 (GRCm38)	missense	possibly damaging	0.95
R8898:Ambn	UTSW	5	88,465,192 (GRCm38)	critical splice donor site	probably null
R9481:Ambn	UTSW	5	88,465,191 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACATCCCCAGTATGGCAAG -3'
(R):5'- GGGACCTACACTATTTCTAGCC -3'

Sequencing Primer
(F):5'- TGCAGGGCAAAGACTCCTTG -3'
(R):5'- GGACCTACACTATTTCTAGCCACTTG -3'

Posted On

2017-03-31