Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Map7'

568998

Institutional Source

Beutler Lab

Gene Symbol

Map7

Ensembl Gene

ENSMUSG00000019996

Gene Name

microtubule-associated protein 7

Synonyms

E-MAP-115, Mtap7, ste, mshi, mste

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20024666-20157336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20109208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 87 (V87E)

Ref Sequence

ENSEMBL: ENSMUSP00000149367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020173] [ENSMUST00000116259] [ENSMUST00000213312] [ENSMUST00000214231] [ENSMUST00000215924]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020173

SMART Domains

Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	55	85	N/A	INTRINSIC
coiled coil region	89	152	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	379	392	N/A	INTRINSIC
Pfam:MAP7	447	616	1.1e-59	PFAM
internal_repeat_1	623	658	5.23e-6	PROSPERO
internal_repeat_1	699	736	5.23e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000116259

SMART Domains

Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	55	85	N/A	INTRINSIC
coiled coil region	89	152	N/A	INTRINSIC
low complexity region	365	375	N/A	INTRINSIC
low complexity region	379	392	N/A	INTRINSIC
Pfam:MAP7	453	611	4.7e-46	PFAM
internal_repeat_1	623	656	2.41e-5	PROSPERO
internal_repeat_1	699	734	2.41e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000213312

Predicted Effect

unknown
Transcript: ENSMUST00000214231
AA Change: V87E

Predicted Effect

probably benign
Transcript: ENSMUST00000215924

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Males homozygous for mutations in this marker are sterile with small, disorganized testes, small epidiymis and seminiferous tubules. They have deformed spermatid nuclei and a block in spermatogenesis. Aberrant microtubules are seen in elongating spermatids and sertoli cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,367,430 (GRCm39)	T3I	probably benign	Het
Ahi1	T	A	10: 20,862,976 (GRCm39)	V717E	probably damaging	Het
Anapc4	A	G	5: 53,002,672 (GRCm39)	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,251,367 (GRCm39)	C120*	probably null	Het
Bdp1	A	T	13: 100,178,040 (GRCm39)	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,373,461 (GRCm39)	V141A	probably damaging	Het
Cfap46	G	T	7: 139,215,062 (GRCm39)		probably null	Het
Cgnl1	C	A	9: 71,633,165 (GRCm39)	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,369,573 (GRCm39)	S522G	probably benign	Het
Cox19	A	G	5: 139,328,402 (GRCm39)	F37S	probably damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,756 (GRCm39)	R346W	probably damaging	Het
Dip2a	A	C	10: 76,108,396 (GRCm39)	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,308,869 (GRCm39)	W1961G	probably damaging	Het
Dst	T	C	1: 34,240,486 (GRCm39)	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,691,627 (GRCm39)	S92G	probably damaging	Het
Ep300	C	T	15: 81,511,515 (GRCm39)	T865I	unknown	Het
Ercc6	A	G	14: 32,248,361 (GRCm39)	E304G	probably benign	Het
Filip1l	A	C	16: 57,391,300 (GRCm39)	E629D	probably damaging	Het
Frem1	G	A	4: 82,938,992 (GRCm39)	T30I	possibly damaging	Het
Glb1	T	C	9: 114,246,126 (GRCm39)	F59S	probably benign	Het
Gli3	T	C	13: 15,900,144 (GRCm39)	L1177P	probably benign	Het
Gpatch2l	A	G	12: 86,303,646 (GRCm39)	T223A	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hmcn1	A	T	1: 150,479,565 (GRCm39)	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,899,542 (GRCm39)	Y111N	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Iqcn	T	A	8: 71,169,453 (GRCm39)	M1181K	possibly damaging	Het
Iqgap2	T	A	13: 95,772,163 (GRCm39)	M1339L	probably benign	Het
Kif21b	A	G	1: 136,087,387 (GRCm39)	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,671,234 (GRCm39)	C79F	unknown	Het
Ldb3	T	C	14: 34,293,759 (GRCm39)	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,516,794 (GRCm39)	V162E	probably benign	Het
Mndal	A	T	1: 173,703,185 (GRCm39)	D73E	unknown	Het
Msantd1	T	C	5: 35,075,039 (GRCm39)	S34P	probably damaging	Het
Myh14	T	C	7: 44,260,977 (GRCm39)	Q1838R	possibly damaging	Het
Myh15	G	T	16: 48,993,369 (GRCm39)	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,565,796 (GRCm39)	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686 (GRCm39)	L944Q	probably benign	Het
Or5h27	A	T	16: 59,006,376 (GRCm39)	F157I	unknown	Het
Orc1	A	G	4: 108,445,911 (GRCm39)	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,634,893 (GRCm39)	A490T	probably benign	Het
Pirb	A	T	7: 3,720,187 (GRCm39)	C395*	probably null	Het
Ppp1r11	T	C	17: 37,261,900 (GRCm39)	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,524 (GRCm39)	D290G	probably benign	Het
Ptpn21	G	T	12: 98,646,360 (GRCm39)	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,570,660 (GRCm39)	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,790,811 (GRCm39)	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,219,330 (GRCm39)	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slain2	A	T	5: 73,132,002 (GRCm39)	T498S	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,499,462 (GRCm39)	I307F	probably damaging	Het
Snap91	C	T	9: 86,655,598 (GRCm39)	G800R	unknown	Het
Tnc	G	T	4: 63,882,999 (GRCm39)		probably null	Het
Trav21-dv12	T	C	14: 54,113,514 (GRCm39)		probably benign	Het
Txk	A	T	5: 72,873,226 (GRCm39)	I228N	probably damaging	Het
Vac14	T	C	8: 111,438,252 (GRCm39)	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr35	T	G	12: 9,037,312 (GRCm39)	M306R	probably benign	Het
Zan	A	T	5: 137,463,494 (GRCm39)	S562T	probably benign	Het

Other mutations in Map7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Map7	APN	10	20,149,550 (GRCm39)	missense	unknown
IGL03019:Map7	APN	10	20,143,101 (GRCm39)	missense	unknown
IGL03263:Map7	APN	10	20,121,068 (GRCm39)	nonsense	probably null
R0893:Map7	UTSW	10	20,149,629 (GRCm39)	splice site	probably null
R1172:Map7	UTSW	10	20,121,045 (GRCm39)	missense	probably damaging	1.00
R2097:Map7	UTSW	10	20,122,362 (GRCm39)	missense	probably damaging	1.00
R2239:Map7	UTSW	10	20,154,028 (GRCm39)	missense	unknown
R3760:Map7	UTSW	10	20,152,027 (GRCm39)	splice site	probably benign
R3980:Map7	UTSW	10	20,143,099 (GRCm39)	missense	unknown
R5009:Map7	UTSW	10	20,137,664 (GRCm39)	nonsense	probably null
R5397:Map7	UTSW	10	20,149,067 (GRCm39)	missense	unknown
R5422:Map7	UTSW	10	20,142,512 (GRCm39)	missense	probably damaging	0.99
R5501:Map7	UTSW	10	20,151,948 (GRCm39)	missense	unknown
R5664:Map7	UTSW	10	20,143,105 (GRCm39)	missense	unknown
R5773:Map7	UTSW	10	20,122,390 (GRCm39)	missense	probably benign	0.22
R6209:Map7	UTSW	10	20,152,026 (GRCm39)	splice site	probably null
R6438:Map7	UTSW	10	20,143,003 (GRCm39)	missense	unknown
R6446:Map7	UTSW	10	20,153,979 (GRCm39)	missense	unknown
R6919:Map7	UTSW	10	20,046,828 (GRCm39)	start gained	probably benign
R7440:Map7	UTSW	10	20,137,605 (GRCm39)	missense	probably damaging	1.00
R7596:Map7	UTSW	10	20,153,927 (GRCm39)	missense	unknown
R7958:Map7	UTSW	10	20,105,575 (GRCm39)	missense	unknown
R8517:Map7	UTSW	10	20,137,581 (GRCm39)	missense	probably damaging	0.96
R8524:Map7	UTSW	10	20,142,569 (GRCm39)	missense	probably benign	0.27
R8977:Map7	UTSW	10	20,145,336 (GRCm39)	critical splice donor site	probably null
R9164:Map7	UTSW	10	20,122,410 (GRCm39)	missense	probably benign	0.39
R9453:Map7	UTSW	10	20,153,981 (GRCm39)	missense	unknown
R9522:Map7	UTSW	10	20,105,642 (GRCm39)	missense	possibly damaging	0.81
R9574:Map7	UTSW	10	20,153,966 (GRCm39)	missense	unknown
X0022:Map7	UTSW	10	20,145,328 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGAGTGAGACACATACCAATTTC -3'
(R):5'- AACCACTTGCCACTTCCTGG -3'

Sequencing Primer
(F):5'- TGTGAACCACCTGATGACTG -3'
(R):5'- ACTTCCTGGTAAGCCGGTC -3'

Posted On

2019-09-13