Mutagenetix > Incidental Mutation

Incidental Mutation 'R9579:Matcap1'

722461

Institutional Source

Beutler Lab

Gene Symbol

Matcap1

Ensembl Gene

ENSMUSG00000014837

Gene Name

microtubule associated tyrosine carboxypeptidase 1

Synonyms

MATCAP, 4931428F04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R9579 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

106007041-106016160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106012379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 23 (S23T)

Ref Sequence

ENSEMBL: ENSMUSP00000014981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212777] [ENSMUST00000212922]

AlphaFold

Q810A5

Predicted Effect

probably benign
Transcript: ENSMUST00000014920

SMART Domains

Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

Domain	Start	End	E-Value	Type
CARD	4	92	2.1e-27	SMART
low complexity region	149	161	N/A	INTRINSIC
low complexity region	173	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000014981
AA Change: S23T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837
AA Change: S23T

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057855

SMART Domains

Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251

Domain	Start	End	E-Value	Type
Pfam:Sec6	189	722	5.4e-116	PFAM
low complexity region	723	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171788
AA Change: S23T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837
AA Change: S23T

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212219
AA Change: S23T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000212777

Predicted Effect

probably benign
Transcript: ENSMUST00000212922
AA Change: S23T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	A	11: 46,009,262 (GRCm39)	H229N	probably benign	Het
Ak9	C	A	10: 41,213,576 (GRCm39)	H260Q		Het
Akap3	G	A	6: 126,850,974 (GRCm39)	V831I	probably damaging	Het
Arhgap45	T	C	10: 79,853,843 (GRCm39)	F119S	probably benign	Het
Best3	A	G	10: 116,829,100 (GRCm39)	T127A	probably damaging	Het
Ccdc7a	G	A	8: 129,774,134 (GRCm39)	Q134*	probably null	Het
Ceacam5	C	A	7: 17,479,561 (GRCm39)	S226Y	probably damaging	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Cul4a	G	A	8: 13,186,147 (GRCm39)	E450K	probably damaging	Het
Cyb5a	A	T	18: 84,891,273 (GRCm39)	R89S	probably benign	Het
Dnah2	A	G	11: 69,368,041 (GRCm39)	L1766P	probably damaging	Het
Gbp4	T	C	5: 105,270,947 (GRCm39)	E228G	probably damaging	Het
Ghr	A	G	15: 3,349,612 (GRCm39)	I522T	probably benign	Het
Gm5225	A	C	17: 24,242,897 (GRCm39)	H22P	possibly damaging	Het
Herc2	T	A	7: 55,758,500 (GRCm39)	C796S	probably damaging	Het
Hmgxb4	G	T	8: 75,756,638 (GRCm39)	A588S	probably damaging	Het
Lats2	G	A	14: 57,937,191 (GRCm39)	P433S	probably damaging	Het
Lrfn1	C	T	7: 28,166,769 (GRCm39)	T721I	probably damaging	Het
Mpzl3	G	A	9: 44,973,350 (GRCm39)	V30I	probably benign	Het
Or2r3	A	T	6: 42,448,574 (GRCm39)	C179*	probably null	Het
Pcdh15	A	G	10: 74,457,117 (GRCm39)	Y1298C	possibly damaging	Het
Plcd4	C	A	1: 74,596,948 (GRCm39)	H397N	probably benign	Het
Pnn	G	A	12: 59,117,030 (GRCm39)	A201T	possibly damaging	Het
Ptprd	C	G	4: 75,872,315 (GRCm39)	A1134P	possibly damaging	Het
Rabl3	T	C	16: 37,362,230 (GRCm39)	V23A	probably damaging	Het
Rnf157	T	C	11: 116,240,822 (GRCm39)	N423S	probably benign	Het
Rtn1	T	C	12: 72,270,289 (GRCm39)	D601G	probably damaging	Het
Rxfp1	A	G	3: 79,557,946 (GRCm39)	Y511H	probably damaging	Het
Sema5b	T	C	16: 35,467,582 (GRCm39)	M282T	probably benign	Het
Slco5a1	G	T	1: 12,949,383 (GRCm39)	S669*	probably null	Het
Sphkap	C	G	1: 83,255,295 (GRCm39)	G818A	probably damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,942,107 (GRCm39)	S12G	probably damaging	Het
Tmem150a	C	A	6: 72,334,070 (GRCm39)	Q51K	probably benign	Het
Ttn	C	T	2: 76,550,196 (GRCm39)	D31662N	probably damaging	Het
Ttn	C	T	2: 76,578,602 (GRCm39)	G24097D	probably damaging	Het
Tubb4b	T	C	2: 25,114,139 (GRCm39)	T55A	probably benign	Het
Vcan	A	T	13: 89,837,713 (GRCm39)	D2610E	possibly damaging	Het
Xkr5	T	C	8: 18,983,785 (GRCm39)	T586A	probably benign	Het
Zfp260	T	C	7: 29,805,108 (GRCm39)	F336S		Het
Zic1	A	G	9: 91,246,790 (GRCm39)	F94S	probably damaging	Het

Other mutations in Matcap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Matcap1	APN	8	106,011,289 (GRCm39)	splice site	probably benign
IGL02544:Matcap1	APN	8	106,010,092 (GRCm39)	missense	probably benign	0.44
IGL02822:Matcap1	APN	8	106,011,330 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Matcap1	UTSW	8	106,011,376 (GRCm39)	missense	probably benign	0.36
R0357:Matcap1	UTSW	8	106,011,699 (GRCm39)	missense	probably damaging	1.00
R0507:Matcap1	UTSW	8	106,011,351 (GRCm39)	missense	probably damaging	1.00
R1759:Matcap1	UTSW	8	106,012,182 (GRCm39)	missense	probably damaging	0.96
R2874:Matcap1	UTSW	8	106,008,664 (GRCm39)	missense	possibly damaging	0.95
R3896:Matcap1	UTSW	8	106,009,920 (GRCm39)	missense	probably benign	0.00
R4960:Matcap1	UTSW	8	106,009,843 (GRCm39)	missense	probably damaging	1.00
R5341:Matcap1	UTSW	8	106,011,687 (GRCm39)	missense	probably damaging	1.00
R5834:Matcap1	UTSW	8	106,008,755 (GRCm39)	nonsense	probably null
R6863:Matcap1	UTSW	8	106,012,435 (GRCm39)	missense	probably damaging	1.00
R7247:Matcap1	UTSW	8	106,011,331 (GRCm39)	missense	probably benign	0.05
R8130:Matcap1	UTSW	8	106,012,145 (GRCm39)	missense	probably benign	0.00
R9258:Matcap1	UTSW	8	106,008,775 (GRCm39)	missense	probably damaging	0.98
R9721:Matcap1	UTSW	8	106,009,820 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CGGCCAGTACTATTTACACTGTAG -3'
(R):5'- CTCAACACGGATAACATGGGAC -3'

Sequencing Primer
(F):5'- CACTGTAGGTGCTCTCGCTG -3'
(R):5'- AGGGGGCTTCCTCCTCTGAC -3'

Posted On

2022-08-09