Mutagenetix > Incidental Mutation

Incidental Mutation 'R5061:Tfap2c'

386598

Institutional Source

Beutler Lab

Gene Symbol

Tfap2c

Ensembl Gene

ENSMUSG00000028640

Gene Name

transcription factor AP-2, gamma

Synonyms

Tcfap2c, AP2gamma, Stra2, Ap-2.2

MMRRC Submission

042651-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172391513-172400542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172393947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 252 (D252G)

Ref Sequence

ENSEMBL: ENSMUSP00000096657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030391] [ENSMUST00000099058] [ENSMUST00000170744]

AlphaFold

Q61312

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030391
AA Change: D188G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: D188G

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
low complexity region	148	168	N/A	INTRINSIC
Pfam:TF_AP-2	219	427	2.1e-102	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099058
AA Change: D252G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: D252G

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	118	130	N/A	INTRINSIC
low complexity region	176	188	N/A	INTRINSIC
low complexity region	212	232	N/A	INTRINSIC
Pfam:TF_AP-2	285	486	2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142633

Predicted Effect

probably damaging
Transcript: ENSMUST00000170744
AA Change: D227G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: D227G

Domain	Start	End	E-Value	Type
low complexity region	93	105	N/A	INTRINSIC
low complexity region	151	163	N/A	INTRINSIC
low complexity region	187	207	N/A	INTRINSIC
Pfam:TF_AP-2	258	466	4.4e-102	PFAM

Meta Mutation Damage Score

0.2768

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation, failure to establish a normal maternal-embryonic interface, malformed extra-embryonic tissues, and early embryonic lethality due to placental malfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,450,953 (GRCm39)	H53R	probably benign	Het
Abcg1	A	G	17: 31,311,366 (GRCm39)	K124E	probably damaging	Het
Acot4	G	T	12: 84,085,475 (GRCm39)	R64L	probably benign	Het
Adam22	G	C	5: 8,230,238 (GRCm39)		probably benign	Het
Add2	G	A	6: 86,064,029 (GRCm39)		probably null	Het
Adgrb3	G	A	1: 25,107,209 (GRCm39)		probably benign	Het
Akap8l	T	G	17: 32,551,868 (GRCm39)	K441T	probably damaging	Het
Aspn	T	A	13: 49,720,080 (GRCm39)	S365R	probably damaging	Het
Atxn1	T	G	13: 45,710,569 (GRCm39)	K788Q	probably damaging	Het
Atxn2l	G	T	7: 126,099,375 (GRCm39)	H135N	probably damaging	Het
Borcs8	T	G	8: 70,593,008 (GRCm39)		probably null	Het
Col5a1	G	A	2: 27,842,390 (GRCm39)	D422N	unknown	Het
Cstad	A	T	2: 30,498,275 (GRCm39)	T37S	unknown	Het
Dgkq	A	T	5: 108,801,989 (GRCm39)	D455E	probably benign	Het
Dop1a	T	C	9: 86,385,161 (GRCm39)		probably benign	Het
Ebf3	T	C	7: 136,915,288 (GRCm39)	I84V	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
Eya3	T	A	4: 132,431,689 (GRCm39)	D323E	probably damaging	Het
F5	T	C	1: 164,021,749 (GRCm39)	L1408P	probably benign	Het
Fam110d	T	C	4: 133,979,041 (GRCm39)	T146A	probably benign	Het
Gfod1	C	T	13: 43,353,992 (GRCm39)	G328S	probably benign	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Gm10650	T	A	3: 127,833,666 (GRCm39)		noncoding transcript	Het
Gm14226	T	A	2: 154,867,106 (GRCm39)	H354Q	probably benign	Het
Gm15056	T	C	8: 21,390,758 (GRCm39)	T60A	probably benign	Het
Hsd11b1	A	T	1: 192,924,553 (GRCm39)	N6K	probably benign	Het
Ighv1-36	T	C	12: 114,843,742 (GRCm39)	I39M	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kdm7a	G	A	6: 39,128,386 (GRCm39)	P482S	possibly damaging	Het
Lama5	C	A	2: 179,840,579 (GRCm39)	E607*	probably null	Het
Lao1	T	A	4: 118,824,673 (GRCm39)	S252T	probably benign	Het
Lrp12	A	G	15: 39,741,650 (GRCm39)	F355S	probably damaging	Het
Mlycd	T	C	8: 120,137,043 (GRCm39)	F421S	probably damaging	Het
Nectin3	T	C	16: 46,268,812 (GRCm39)	E530G	probably benign	Het
Nifk	T	C	1: 118,260,669 (GRCm39)	*270R	probably null	Het
Ocln	T	C	13: 100,676,106 (GRCm39)	Y129C	probably damaging	Het
Or10ag60	C	T	2: 87,438,176 (GRCm39)	T148I	probably benign	Het
Or4f54	T	A	2: 111,122,832 (GRCm39)	L73H	probably damaging	Het
Or52l1	T	A	7: 104,829,864 (GRCm39)	I219F	possibly damaging	Het
Or5b117	A	T	19: 13,431,349 (GRCm39)	C177*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppcs	T	C	4: 119,276,412 (GRCm39)	K58E	probably damaging	Het
Prss38	T	C	11: 59,265,196 (GRCm39)	T123A	probably damaging	Het
Rap1gap	T	A	4: 137,447,744 (GRCm39)		probably null	Het
Rbm18	A	G	2: 36,017,217 (GRCm39)	F54L	possibly damaging	Het
Rwdd3	G	A	3: 120,953,432 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,650,422 (GRCm39)	K138E	possibly damaging	Het
Sec24a	T	C	11: 51,604,359 (GRCm39)		probably null	Het
Serpinb10	A	G	1: 107,468,701 (GRCm39)	T115A	probably benign	Het
Slco1a8	T	A	6: 141,954,414 (GRCm39)	M20L	probably benign	Het
Slx4ip	T	G	2: 136,885,930 (GRCm39)	F83L	probably damaging	Het
St3gal1	A	T	15: 66,980,078 (GRCm39)	S274T	probably benign	Het
Stab1	A	C	14: 30,885,056 (GRCm39)	C121W	probably damaging	Het
Stab2	A	G	10: 86,743,249 (GRCm39)	L1149P	probably damaging	Het
Svil	T	G	18: 5,048,954 (GRCm39)	I77R	probably benign	Het
Tbk1	T	G	10: 121,412,241 (GRCm39)	E47A	possibly damaging	Het
Tert	C	T	13: 73,782,397 (GRCm39)	T557I	probably damaging	Het
Tll1	C	A	8: 64,506,983 (GRCm39)	C586F	probably damaging	Het
Tln2	T	G	9: 67,261,750 (GRCm39)	N663T	probably benign	Het
Tmem245	T	A	4: 56,946,945 (GRCm39)	Y156F	possibly damaging	Het
Uhrf1	G	T	17: 56,627,542 (GRCm39)		probably null	Het
Unc79	T	A	12: 103,134,700 (GRCm39)	M2417K	possibly damaging	Het
Ush2a	T	C	1: 188,689,471 (GRCm39)	V5011A	probably benign	Het
Virma	T	C	4: 11,494,840 (GRCm39)	V47A	possibly damaging	Het
Vmn2r53	A	C	7: 12,315,741 (GRCm39)	S693A	probably benign	Het
Vps54	G	A	11: 21,269,881 (GRCm39)		probably benign	Het
Znfx1	T	C	2: 166,907,318 (GRCm39)		probably benign	Het

Other mutations in Tfap2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Tfap2c	APN	2	172,393,438 (GRCm39)	missense	probably damaging	0.98
IGL02986:Tfap2c	APN	2	172,399,171 (GRCm39)	missense	probably damaging	1.00
IGL03151:Tfap2c	APN	2	172,399,110 (GRCm39)	nonsense	probably null
BB009:Tfap2c	UTSW	2	172,393,706 (GRCm39)	missense	probably damaging	1.00
BB019:Tfap2c	UTSW	2	172,393,706 (GRCm39)	missense	probably damaging	1.00
R0268:Tfap2c	UTSW	2	172,393,423 (GRCm39)	missense	probably benign	0.01
R0344:Tfap2c	UTSW	2	172,393,423 (GRCm39)	missense	probably benign	0.01
R1982:Tfap2c	UTSW	2	172,399,156 (GRCm39)	missense	probably damaging	0.98
R3120:Tfap2c	UTSW	2	172,399,015 (GRCm39)	missense	possibly damaging	0.96
R4038:Tfap2c	UTSW	2	172,398,110 (GRCm39)	missense	probably damaging	0.96
R4498:Tfap2c	UTSW	2	172,399,102 (GRCm39)	nonsense	probably null
R4570:Tfap2c	UTSW	2	172,399,247 (GRCm39)	missense	probably damaging	1.00
R4855:Tfap2c	UTSW	2	172,393,438 (GRCm39)	missense	probably damaging	0.98
R5610:Tfap2c	UTSW	2	172,391,778 (GRCm39)	missense	probably benign	0.06
R6706:Tfap2c	UTSW	2	172,399,276 (GRCm39)	missense	probably benign	0.26
R7218:Tfap2c	UTSW	2	172,399,277 (GRCm39)	missense	probably benign	0.12
R7228:Tfap2c	UTSW	2	172,393,492 (GRCm39)	missense	probably benign	0.01
R7502:Tfap2c	UTSW	2	172,393,639 (GRCm39)	missense	probably benign
R7932:Tfap2c	UTSW	2	172,393,706 (GRCm39)	missense	probably damaging	1.00
R8078:Tfap2c	UTSW	2	172,393,392 (GRCm39)	missense	probably damaging	1.00
R8336:Tfap2c	UTSW	2	172,399,112 (GRCm39)	nonsense	probably null
R8686:Tfap2c	UTSW	2	172,393,926 (GRCm39)	missense	possibly damaging	0.89
R9301:Tfap2c	UTSW	2	172,395,347 (GRCm39)	missense	probably benign	0.02
R9608:Tfap2c	UTSW	2	172,391,764 (GRCm39)	nonsense	probably null
R9663:Tfap2c	UTSW	2	172,399,213 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCCCATATTTCAGGGCTGGAG -3'
(R):5'- TTTCGTTCAGGCCAGGAAC -3'

Sequencing Primer
(F):5'- TGAGAACCTGGGGCTGCAC -3'
(R):5'- AGGAACTGACTTTCGTTCAAGCG -3'

Posted On

2016-06-06