Mutagenetix > Incidental Mutation

Incidental Mutation 'R1172:Map7'

99583

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

039245-MU

Accession Numbers

Essential gene?

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

Stock #

R1172 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

20024666-20157336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20121045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 92 (E92K)

Ref Sequence

ENSEMBL: ENSMUSP00000020173 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020173
AA Change: E92K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: E92K

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 damaging
Transcript: ENSMUST00000116259
AA Change: E92K

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

SMART Domains

Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: E92K

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 damaging
Transcript: ENSMUST00000213312
AA Change: E101K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214823

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215924
AA Change: E114K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216065

Meta Mutation Damage Score

0.6864

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam7	T	G	14: 68,752,370 (GRCm39)	K371N	probably damaging	Het
Adgrv1	A	T	13: 81,705,182 (GRCm39)	S1543T	probably damaging	Het
Agbl4	A	T	4: 111,513,515 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,389,575 (GRCm39)	I1707N	probably damaging	Het
Atp10a	T	C	7: 58,453,514 (GRCm39)	V864A	probably benign	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bst1	A	G	5: 43,982,750 (GRCm39)		probably null	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Ccdc28b	T	C	4: 129,514,682 (GRCm39)		probably benign	Het
Cmas	G	T	6: 142,702,604 (GRCm39)	G36C	probably benign	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Epc1	A	C	18: 6,490,525 (GRCm39)	Y31D	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,697,425 (GRCm39)	D642G	possibly damaging	Het
Fmnl2	A	T	2: 52,962,286 (GRCm39)	N257I	probably damaging	Het
Fry	G	A	5: 150,404,959 (GRCm39)	W793*	probably null	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm10801	C	T	2: 98,494,252 (GRCm39)		probably benign	Het
Gm21718	T	C	14: 51,553,348 (GRCm39)		noncoding transcript	Het
Gpld1	A	G	13: 25,141,549 (GRCm39)		probably null	Het
Gtf3c2	A	T	5: 31,325,419 (GRCm39)	Y500N	probably damaging	Het
Hbs1l	A	G	10: 21,180,537 (GRCm39)	D73G	probably damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Lamc2	A	T	1: 153,042,033 (GRCm39)	S34T	probably damaging	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Lrrc19	A	T	4: 94,526,626 (GRCm39)	Y310*	probably null	Het
Map3k5	G	A	10: 19,932,394 (GRCm39)		probably benign	Het
Mettl24	G	A	10: 40,613,704 (GRCm39)	A148T	probably benign	Het
Mosmo	A	G	7: 120,329,745 (GRCm39)	Y122C	probably benign	Het
Ncr1	T	A	7: 4,341,120 (GRCm39)	I37N	probably benign	Het
Nkx3-1	T	C	14: 69,429,434 (GRCm39)	S151P	probably damaging	Het
Npm2	T	A	14: 70,889,661 (GRCm39)	K54*	probably null	Het
Npr1	T	A	3: 90,368,689 (GRCm39)	D457V	probably benign	Het
Nudt21	T	C	8: 94,757,757 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Pik3r4	G	T	9: 105,540,373 (GRCm39)	G754C	probably damaging	Het
Rftn2	A	G	1: 55,250,376 (GRCm39)	V123A	probably damaging	Het
Rpa1	A	T	11: 75,203,219 (GRCm39)	V392D	probably damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Slc45a4	C	T	15: 73,477,278 (GRCm39)		probably benign	Het
Syndig1l	T	A	12: 84,725,942 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,389,752 (GRCm39)	R257*	probably null	Het
Tenm4	A	T	7: 96,497,251 (GRCm39)	E1179V	probably damaging	Het
Txlnb	A	G	10: 17,718,504 (GRCm39)	N445S	probably benign	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Vmn2r87	T	C	10: 130,313,453 (GRCm39)	T438A	probably benign	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Ywhaq	T	C	12: 21,445,024 (GRCm39)	N207S	probably benign	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zfp981	G	A	4: 146,622,221 (GRCm39)	S382N	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
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
R7327:Map7	UTSW	10	20,109,208 (GRCm39)	missense	unknown
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

Posted On

2014-01-15