Mutagenetix > Incidental Mutation

Incidental Mutation 'R2239:Map7'

240550

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

040239-MU

Accession Numbers

Essential gene?

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

Stock #

R2239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20024666-20157336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20154028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 715 (N715Y)

Ref Sequence

ENSEMBL: ENSMUSP00000111963 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000020173
AA Change: N707Y

SMART Domains

Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: N707Y

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

unknown
Transcript: ENSMUST00000116259
AA Change: N715Y

SMART Domains

Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: N715Y

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

noncoding transcript
Transcript: ENSMUST00000213372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217535

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

94% (68/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	T	A	1: 139,384,584 (GRCm39)	I127K	possibly damaging	Het
Atp8b3	A	G	10: 80,366,822 (GRCm39)	C259R	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Ccdc47	G	T	11: 106,092,960 (GRCm39)	N100K	possibly damaging	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdc37	G	A	9: 21,053,829 (GRCm39)	Q176*	probably null	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Cnnm4	T	A	1: 36,544,759 (GRCm39)	S673T	probably benign	Het
Cnot1	T	C	8: 96,496,149 (GRCm39)	I342V	probably benign	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Dars2	T	C	1: 160,890,852 (GRCm39)	T120A	possibly damaging	Het
Dnah7b	C	A	1: 46,240,344 (GRCm39)		probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Exoc1	T	C	5: 76,707,557 (GRCm39)		probably benign	Het
Fam186a	C	T	15: 99,852,745 (GRCm39)	V158M	unknown	Het
Fryl	A	G	5: 73,265,890 (GRCm39)	L477P	probably damaging	Het
Gbf1	T	C	19: 46,152,057 (GRCm39)	I30T	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Ift88	A	G	14: 57,692,961 (GRCm39)	I387V	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Kdm6a	T	C	X: 18,065,476 (GRCm39)	F104S	probably damaging	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Map3k1	A	C	13: 111,885,478 (GRCm39)	S1480A	probably benign	Het
Morn4	A	G	19: 42,066,471 (GRCm39)	Y39H	possibly damaging	Het
Myh14	A	T	7: 44,314,607 (GRCm39)	D105E	probably damaging	Het
Nfasc	T	C	1: 132,510,760 (GRCm39)		probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or2aa1	A	G	11: 59,480,097 (GRCm39)	S273P	possibly damaging	Het
Or5ac23	T	A	16: 59,149,738 (GRCm39)	I45F	probably damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
P4hb	A	G	11: 120,454,108 (GRCm39)	Y329H	probably damaging	Het
Papolg	A	G	11: 23,826,378 (GRCm39)	Y259H	probably damaging	Het
Pcgf5	A	T	19: 36,414,754 (GRCm39)	N105I	probably damaging	Het
Pde4a	G	A	9: 21,122,564 (GRCm39)	C820Y	probably damaging	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Phrf1	A	G	7: 140,817,605 (GRCm39)	E138G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc16a8	T	C	15: 79,137,147 (GRCm39)	M88V	probably damaging	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tet1	T	C	10: 62,715,513 (GRCm39)	D94G	probably benign	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,308,411 (GRCm39)	T2020K	probably benign	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	unknown	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
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

PCR Primer
(F):5'- TCTATGGCCCCAAGCTTCTG -3'
(R):5'- TGCAGTCTTTTCTACAGTGGC -3'

Sequencing Primer
(F):5'- ATGTTTGATCTGTCACATCCCCAG -3'
(R):5'- ACAGTGGCTTCCTCATTCC -3'

Posted On

2014-10-15