Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Map7'

714400

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

Accession Numbers

Essential gene?

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

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20024666-20157336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20153981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 699 (V699A)

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: V691A

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: V699A

SMART Domains

Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: V699A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Abca6	A	G	11: 110,138,090 (GRCm39)		probably null	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
Cyp4x1	T	C	4: 114,991,069 (GRCm39)	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
Gm5114	T	A	7: 39,058,242 (GRCm39)	Q459L	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Samd13	A	T	3: 146,368,510 (GRCm39)	D27E		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Src	A	T	2: 157,307,852 (GRCm39)	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	probably 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
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
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'- GCATTATCGGGCAGCAAGTG -3'
(R):5'- AACAACCATTCATCCTCTCTTGGG -3'

Sequencing Primer
(F):5'- ATTATCGGGCAGCAAGTGTCTCC -3'
(R):5'- GTACCAGCTCTGACGACCG -3'

Posted On

2022-06-15