Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Tafa2'

266450

Institutional Source

Beutler Lab

Gene Symbol

Tafa2

Ensembl Gene

ENSMUSG00000044071

Gene Name

TAFA chemokine like family member 2

Synonyms

Sam2, Tafa2, Fam19a2, Tafa-2

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123099901-123577109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123540270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 42 (H42L)

Ref Sequence

ENSEMBL: ENSMUSP00000050199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050756]

AlphaFold

Q7TPG7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050756
AA Change: H42L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050199
Gene: ENSMUSG00000044071
AA Change: H42L

Domain	Start	End	E-Value	Type
Pfam:TAFA	45	133	6.8e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219723

Meta Mutation Damage Score

0.1373

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anxiety-like and fear-related behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Tafa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
dolorous	UTSW	10	123,540,297 (GRCm39)	missense	probably damaging	1.00
Lugubrious	UTSW	10	123,429,401 (GRCm39)	missense	possibly damaging	0.86
R0395:Tafa2	UTSW	10	123,429,497 (GRCm39)	missense	probably benign	0.05
R1478:Tafa2	UTSW	10	123,429,401 (GRCm39)	missense	possibly damaging	0.86
R2869:Tafa2	UTSW	10	123,540,270 (GRCm39)	missense	possibly damaging	0.63
R2870:Tafa2	UTSW	10	123,540,270 (GRCm39)	missense	possibly damaging	0.63
R2870:Tafa2	UTSW	10	123,540,270 (GRCm39)	missense	possibly damaging	0.63
R2873:Tafa2	UTSW	10	123,540,270 (GRCm39)	missense	possibly damaging	0.63
R6537:Tafa2	UTSW	10	123,429,401 (GRCm39)	missense	possibly damaging	0.86
R6589:Tafa2	UTSW	10	123,540,297 (GRCm39)	missense	probably damaging	1.00
R6972:Tafa2	UTSW	10	123,540,278 (GRCm39)	missense	probably benign	0.01
R9043:Tafa2	UTSW	10	123,540,294 (GRCm39)	missense	probably damaging	1.00
R9065:Tafa2	UTSW	10	123,429,421 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TACCGATGGAAATGGTCTCTG -3'
(R):5'- ATAGTGGGGTTCCGATTCCAAC -3'

Sequencing Primer
(F):5'- GGTCTCTGCACGTTTAGAAAAG -3'
(R):5'- GGGTTCCGATTCCAACCATGC -3'

Posted On

2015-02-18