Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Meioc'

471300

Institutional Source

Beutler Lab

Gene Symbol

Meioc

Ensembl Gene

ENSMUSG00000051455

Gene Name

meiosis specific with coiled-coil domain

Synonyms

LOC380729, LOC268491, Gm1564

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R5958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102556177-102573066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102565979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 476 (T476S)

Ref Sequence

ENSEMBL: ENSMUSP00000116246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100378] [ENSMUST00000156590]

AlphaFold

A2AG06

Predicted Effect

probably benign
Transcript: ENSMUST00000100378
AA Change: T532S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097947
Gene: ENSMUSG00000051455
AA Change: T532S

Domain	Start	End	E-Value	Type
low complexity region	526	537	N/A	INTRINSIC
low complexity region	712	728	N/A	INTRINSIC
Pfam:DUF4582	757	922	5.1e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155813

Predicted Effect

probably benign
Transcript: ENSMUST00000156590
AA Change: T476S

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116246
Gene: ENSMUSG00000051455
AA Change: T476S

Domain	Start	End	E-Value	Type
low complexity region	470	481	N/A	INTRINSIC

Meta Mutation Damage Score

0.0604

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit infertility with small gonads, absent germ cells and arrested meiosis. [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
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	Het

Other mutations in Meioc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Meioc	APN	11	102,565,113 (GRCm39)	missense	probably benign	0.33
IGL01952:Meioc	APN	11	102,563,011 (GRCm39)	missense	possibly damaging	0.79
IGL02006:Meioc	APN	11	102,565,092 (GRCm39)	missense	probably damaging	1.00
IGL02195:Meioc	APN	11	102,565,683 (GRCm39)	missense	possibly damaging	0.91
IGL02339:Meioc	APN	11	102,559,274 (GRCm39)	missense	probably benign	0.18
IGL02935:Meioc	APN	11	102,563,017 (GRCm39)	missense	probably benign	0.06
IGL03294:Meioc	APN	11	102,571,495 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Meioc	UTSW	11	102,570,783 (GRCm39)	missense	probably damaging	1.00
R0285:Meioc	UTSW	11	102,563,017 (GRCm39)	missense	probably benign	0.06
R0964:Meioc	UTSW	11	102,570,857 (GRCm39)	missense	probably damaging	1.00
R1074:Meioc	UTSW	11	102,566,219 (GRCm39)	missense	probably damaging	1.00
R2024:Meioc	UTSW	11	102,566,184 (GRCm39)	missense	probably benign	0.00
R4012:Meioc	UTSW	11	102,566,654 (GRCm39)	missense	probably damaging	0.99
R4429:Meioc	UTSW	11	102,566,546 (GRCm39)	missense	probably damaging	1.00
R4491:Meioc	UTSW	11	102,565,746 (GRCm39)	missense	possibly damaging	0.84
R4594:Meioc	UTSW	11	102,564,992 (GRCm39)	missense	probably damaging	1.00
R4752:Meioc	UTSW	11	102,565,259 (GRCm39)	missense	probably benign	0.00
R5301:Meioc	UTSW	11	102,570,871 (GRCm39)	missense	probably damaging	1.00
R5352:Meioc	UTSW	11	102,566,139 (GRCm39)	missense	probably benign	0.03
R5646:Meioc	UTSW	11	102,566,083 (GRCm39)	missense	possibly damaging	0.94
R5968:Meioc	UTSW	11	102,566,657 (GRCm39)	missense	probably damaging	0.99
R6157:Meioc	UTSW	11	102,559,227 (GRCm39)	missense	probably damaging	1.00
R6410:Meioc	UTSW	11	102,565,860 (GRCm39)	missense	probably benign	0.00
R6644:Meioc	UTSW	11	102,559,286 (GRCm39)	critical splice donor site	probably null
R7285:Meioc	UTSW	11	102,557,168 (GRCm39)	missense	probably benign	0.00
R7440:Meioc	UTSW	11	102,565,063 (GRCm39)	missense	possibly damaging	0.67
R7815:Meioc	UTSW	11	102,566,414 (GRCm39)	missense	probably damaging	1.00
R7984:Meioc	UTSW	11	102,565,432 (GRCm39)	missense	possibly damaging	0.94
R8009:Meioc	UTSW	11	102,567,569 (GRCm39)	missense	probably damaging	1.00
R8078:Meioc	UTSW	11	102,559,226 (GRCm39)	nonsense	probably null
R8195:Meioc	UTSW	11	102,565,893 (GRCm39)	nonsense	probably null
R8429:Meioc	UTSW	11	102,565,032 (GRCm39)	missense	probably benign	0.06
R8797:Meioc	UTSW	11	102,567,686 (GRCm39)	nonsense	probably null
R8854:Meioc	UTSW	11	102,566,589 (GRCm39)	missense	probably damaging	0.98
R8891:Meioc	UTSW	11	102,559,246 (GRCm39)	missense	probably benign	0.43
R9081:Meioc	UTSW	11	102,565,001 (GRCm39)	missense	probably benign	0.00
R9360:Meioc	UTSW	11	102,565,779 (GRCm39)	missense	probably benign	0.13
R9539:Meioc	UTSW	11	102,565,506 (GRCm39)	missense	probably damaging	0.99
R9549:Meioc	UTSW	11	102,556,550 (GRCm39)	intron	probably benign
R9751:Meioc	UTSW	11	102,566,419 (GRCm39)	nonsense	probably null
Z1177:Meioc	UTSW	11	102,557,190 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCAGCAACATCTTCAGGAGG -3'
(R):5'- TATCCCATACTGTGAAGCTGAATAG -3'

Sequencing Primer
(F):5'- TCAGCAACATCTTCAGGAGGTATCAG -3'
(R):5'- AGAGATTGTCTTCTCCGG -3'

Posted On

2017-03-31