Mutagenetix > Incidental Mutation

Incidental Mutation 'R7596:Map7'

587728

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

045671-MU

Accession Numbers

Essential gene?

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

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20024666-20157336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20153927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 681 (N681S)

Ref Sequence

ENSEMBL: ENSMUSP00000111963 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: N673S

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: N681S

SMART Domains

Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: N681S

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

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (53/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,556,224 (GRCm39)	S146N	probably damaging	Het
Adam26b	A	C	8: 43,973,237 (GRCm39)	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,363,140 (GRCm39)	R547L	probably benign	Het
Bckdk	G	T	7: 127,505,572 (GRCm39)	E232*	probably null	Het
C8a	T	C	4: 104,711,064 (GRCm39)	K244E	possibly damaging	Het
Cad	A	G	5: 31,226,392 (GRCm39)	I1145V	probably benign	Het
Cd28	C	A	1: 60,802,487 (GRCm39)	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,615,812 (GRCm39)	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,739,167 (GRCm39)	N1298S	probably benign	Het
Cpne5	C	T	17: 29,445,191 (GRCm39)	D38N	possibly damaging	Het
Dcn	A	T	10: 97,345,871 (GRCm39)	I228F	probably damaging	Het
Gm5591	T	G	7: 38,219,608 (GRCm39)	I422L	probably benign	Het
Gnptab	T	G	10: 88,279,232 (GRCm39)	F1201V	probably damaging	Het
Hc	A	G	2: 34,890,859 (GRCm39)	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,847,361 (GRCm39)	N385D	probably benign	Het
Ikbip	A	T	10: 90,918,891 (GRCm39)		probably benign	Het
Kcnk1	T	C	8: 126,722,350 (GRCm39)	L51P	probably damaging	Het
Lcn2	A	G	2: 32,275,721 (GRCm39)	Y160H	probably damaging	Het
Lig1	T	C	7: 13,039,923 (GRCm39)	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,531,592 (GRCm39)	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,111,310 (GRCm39)	T394M	probably damaging	Het
Mdga2	A	T	12: 66,552,897 (GRCm39)	M912K	probably damaging	Het
Mlst8	C	T	17: 24,697,084 (GRCm39)		probably null	Het
Ms4a13	A	T	19: 11,147,329 (GRCm39)	V195D	unknown	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Nr4a2	G	C	2: 56,998,243 (GRCm39)	F574L	probably damaging	Het
Nup107	T	C	10: 117,613,065 (GRCm39)	N288D	probably damaging	Het
Or11g26	A	T	14: 50,753,002 (GRCm39)	T114S	probably benign	Het
Or13a1	T	A	6: 116,471,158 (GRCm39)	V196D	probably benign	Het
Or5b3	C	T	19: 13,388,511 (GRCm39)	H193Y	probably benign	Het
Pcolce	A	G	5: 137,605,087 (GRCm39)		probably null	Het
Pik3cg	A	G	12: 32,254,740 (GRCm39)	F416L	probably damaging	Het
Podnl1	A	G	8: 84,853,024 (GRCm39)	I65V		Het
Prpf8	T	C	11: 75,382,330 (GRCm39)	F387S	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,584,162 (GRCm39)	T430A	probably benign	Het
Rnf187	T	C	11: 58,829,241 (GRCm39)	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,443,783 (GRCm39)	V57I	probably benign	Het
Samhd1	A	T	2: 156,943,754 (GRCm39)	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,722,664 (GRCm39)	T244A	probably benign	Het
Slc35f4	T	A	14: 49,543,666 (GRCm39)	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Smc5	A	C	19: 23,191,533 (GRCm39)	V889G	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spopfm2	T	A	3: 94,083,737 (GRCm39)	T25S	probably benign	Het
Tango2	A	G	16: 18,120,574 (GRCm39)	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 84,893,057 (GRCm39)	T995A	probably benign	Het
Trio	A	T	15: 27,749,912 (GRCm39)	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,427,990 (GRCm39)	F1829L	probably damaging	Het
Ttn	A	G	2: 76,638,923 (GRCm39)	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,877,570 (GRCm39)	N133S	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,197,533 (GRCm39)	T705M	unknown	Het
Vmn2r109	A	T	17: 20,760,942 (GRCm39)	M805K	probably damaging	Het
Vsig10	T	C	5: 117,472,848 (GRCm39)	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,743,704 (GRCm39)	V203L	possibly damaging	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
R7327:Map7	UTSW	10	20,109,208 (GRCm39)	missense	unknown
R7440:Map7	UTSW	10	20,137,605 (GRCm39)	missense	probably damaging	1.00
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'- TTATCGGGCAGCAAGTGTCTC -3'
(R):5'- ACAAAGCCGTTGACGACCAG -3'

Sequencing Primer
(F):5'- GCAAGTGTCTCCACCTCTGAAC -3'
(R):5'- TTGACGACCAGCTCACCTG -3'

Posted On

2019-10-24