Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Map7'

683512

Institutional Source

Beutler Lab

Gene Symbol

Map7

Ensembl Gene

ENSMUSG00000019996

Gene Name

microtubule-associated protein 7

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20148471-20281590 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 20269590 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111963 (fasta)

Gene Model

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

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,328,408	I984N	probably damaging	Het
4930438A08Rik	A	G	11: 58,293,884	E476G	unknown	Het
Aars	G	A	8: 111,040,217	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,313,667	V795L	probably benign	Het
Adam30	A	G	3: 98,162,062	K276E	probably damaging	Het
Adam6b	A	T	12: 113,490,376	N271I	probably benign	Het
Adgrl2	T	C	3: 148,954,587	I17V	probably null	Het
Anapc1	C	A	2: 128,641,402	G1258C	probably damaging	Het
Ank2	G	T	3: 126,944,926	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,795,745	K267*	probably null	Het
Apob	T	C	12: 8,015,990	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,773,364	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,863,370	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,500,490	L42R	probably benign	Het
Ccdc173	T	C	2: 69,787,299	H46R	possibly damaging	Het
Ccer2	G	A	7: 28,756,688	V52M	probably damaging	Het
Ccnj	T	C	19: 40,844,939	F187S	probably damaging	Het
Cd109	G	A	9: 78,707,528	V1286I	probably benign	Het
Cfap46	G	T	7: 139,679,933	T148N	probably benign	Het
Chmp7	A	G	14: 69,721,235	V210A	probably benign	Het
Cuzd1	A	G	7: 131,322,025	F8S	probably benign	Het
Dnmbp	A	T	19: 43,852,312	D549E	probably damaging	Het
Dpp4	A	G	2: 62,374,403	L240P	probably benign	Het
Dst	A	T	1: 34,247,783	R3398S	probably damaging	Het
Eml6	A	G	11: 29,784,182	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,359,124	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,453,850	I339V	probably benign	Het
Ggcx	T	C	6: 72,429,282		probably null	Het
Gm9195	A	G	14: 72,453,898	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,726,632	N96K	possibly damaging	Het
Itga11	T	C	9: 62,755,640	I546T	probably damaging	Het
Map3k5	T	A	10: 20,079,254	F624L	possibly damaging	Het
Mdga2	A	T	12: 66,797,635	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,128,965	C143R	probably benign	Het
Mut	G	T	17: 40,938,590	R152L	probably benign	Het
Ncam1	G	T	9: 49,507,525	T825K	probably damaging	Het
Nucb2	C	A	7: 116,528,828	N257K	probably benign	Het
Olfr1085	C	T	2: 86,658,128	C110Y	probably benign	Het
Olfr1535	T	A	13: 21,555,846	M59L	possibly damaging	Het
Olfr378	A	G	11: 73,425,825	S53P	probably benign	Het
Olfr406	A	T	11: 74,269,478	I30F	probably benign	Het
Olfr640	A	T	7: 104,021,555	Y254*	probably null	Het
Olfr664	A	T	7: 104,734,041	F108I	probably damaging	Het
Pamr1	T	A	2: 102,611,618	V184D	probably damaging	Het
Paqr9	A	T	9: 95,560,835	I293F	possibly damaging	Het
Pi15	G	T	1: 17,619,902		probably null	Het
Pkm	T	A	9: 59,671,640	I301N	probably damaging	Het
Pramel1	T	A	4: 143,397,391	I212N	probably benign	Het
Prdm6	A	T	18: 53,568,301	I549F	probably damaging	Het
Prpf8	A	G	11: 75,496,044	E1105G	probably benign	Het
Rad51b	T	A	12: 79,657,888	V274E	probably damaging	Het
Rd3l	T	A	12: 111,980,159	Y61F	probably damaging	Het
Rgs11	T	C	17: 26,208,259	V388A	probably damaging	Het
Rictor	A	G	15: 6,783,085	I901V	probably benign	Het
Riox2	A	G	16: 59,491,832	D444G	probably benign	Het
Scn2a	T	A	2: 65,763,670	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,812,747	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc34a1	T	C	13: 55,409,002	I337T	probably benign	Het
Slc6a19	T	C	13: 73,682,150	K516E	probably benign	Het
Slco1b2	A	T	6: 141,683,254	M596L	probably benign	Het
Smarce1	A	G	11: 99,219,685	I100T	possibly damaging	Het
Stk32c	A	T	7: 139,125,245	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,323,473		probably null	Het
Tenm4	A	T	7: 96,811,970	N908Y	probably damaging	Het
Tex38	A	G	4: 115,780,595	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239	H299Q	probably benign	Het
Trim55	C	A	3: 19,659,177	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,554,269	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,386,942	T276I	possibly damaging	Het

Other mutations in Map7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Map7	APN	10	20273804	missense	unknown
IGL03019:Map7	APN	10	20267355	missense	unknown
IGL03263:Map7	APN	10	20245322	nonsense	probably null
R0893:Map7	UTSW	10	20273883	splice site	probably null
R1172:Map7	UTSW	10	20245299	missense	probably damaging	1.00
R2097:Map7	UTSW	10	20246616	missense	probably damaging	1.00
R2239:Map7	UTSW	10	20278282	missense	unknown
R3760:Map7	UTSW	10	20276281	splice site	probably benign
R3980:Map7	UTSW	10	20267353	missense	unknown
R5009:Map7	UTSW	10	20261918	nonsense	probably null
R5397:Map7	UTSW	10	20273321	missense	unknown
R5422:Map7	UTSW	10	20266766	missense	probably damaging	0.99
R5501:Map7	UTSW	10	20276202	missense	unknown
R5664:Map7	UTSW	10	20267359	missense	unknown
R5773:Map7	UTSW	10	20246644	missense	probably benign	0.22
R6209:Map7	UTSW	10	20276280	splice site	probably null
R6438:Map7	UTSW	10	20267257	missense	unknown
R6446:Map7	UTSW	10	20278233	missense	unknown
R6919:Map7	UTSW	10	20171082	start gained	probably benign
R7327:Map7	UTSW	10	20233462	missense	unknown
R7440:Map7	UTSW	10	20261859	missense	probably damaging	1.00
R7596:Map7	UTSW	10	20278181	missense	unknown
R7958:Map7	UTSW	10	20229829	missense	unknown
R8517:Map7	UTSW	10	20261835	missense	probably damaging	0.96
R8524:Map7	UTSW	10	20266823	missense	probably benign	0.27
R9164:Map7	UTSW	10	20246664	missense	probably benign	0.39
R9453:Map7	UTSW	10	20278235	missense	unknown
R9522:Map7	UTSW	10	20229896	missense	possibly damaging	0.81
R9574:Map7	UTSW	10	20278220	missense	unknown
X0022:Map7	UTSW	10	20269582	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGATGAATCCCAGGCCTG -3'
(R):5'- AAGGGGCCACTTAAAATGTATGC -3'

Sequencing Primer
(F):5'- GAACCTATTTGTACAGCTGCTCCAG -3'
(R):5'- GGGCCACTTAAAATGTATGCAACTAC -3'

Posted On

2021-10-11