Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:1700129C05Rik'

38408

Institutional Source

Beutler Lab

Gene Symbol

1700129C05Rik

Ensembl Gene

ENSMUSG00000021977

Gene Name

RIKEN cDNA 1700129C05 gene

Synonyms

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59370489-59380342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59377079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 105 (N105D)

Ref Sequence

ENSEMBL: ENSMUSP00000125379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]

AlphaFold

Q9CQ77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022548
AA Change: N206D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: N206D

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000159858
AA Change: N179D

SMART Domains

Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: N179D

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162271

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162674
AA Change: N105D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,231 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,415,198 (GRCm39)	N641S	probably damaging	Het
Aff4	T	A	11: 53,263,708 (GRCm39)	S243T	probably benign	Het
Agap2	A	G	10: 126,923,764 (GRCm39)	H713R	unknown	Het
Ap2a2	T	A	7: 141,211,206 (GRCm39)	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,307,635 (GRCm39)	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,256,663 (GRCm39)	D1019V	probably damaging	Het
Cd7	T	C	11: 120,929,012 (GRCm39)	T80A	probably benign	Het
Chia1	T	C	3: 106,029,755 (GRCm39)	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,808,872 (GRCm39)		probably benign	Het
Chrnb4	A	G	9: 54,942,878 (GRCm39)	V132A	probably benign	Het
Ctnna3	A	G	10: 63,402,619 (GRCm39)	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,573,975 (GRCm39)		noncoding transcript	Het
Dnah6	T	C	6: 72,998,240 (GRCm39)	M4061V	probably benign	Het
Dydc2	C	A	14: 40,783,903 (GRCm39)	M73I	probably benign	Het
Egflam	G	T	15: 7,319,475 (GRCm39)		probably null	Het
Fam228b	C	T	12: 4,798,351 (GRCm39)	V151I	possibly damaging	Het
Fanca	C	T	8: 124,031,552 (GRCm39)	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,313,944 (GRCm39)	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,648,507 (GRCm39)	S66G	probably benign	Het
Kcnq3	A	T	15: 65,892,154 (GRCm39)	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413 (GRCm39)	D182E	probably benign	Het
Llgl2	A	G	11: 115,740,818 (GRCm39)		probably benign	Het
Lmo7	T	A	14: 102,114,313 (GRCm39)	N140K	probably damaging	Het
Myo5c	A	G	9: 75,204,701 (GRCm39)	E1518G	probably damaging	Het
Myof	A	T	19: 38,012,793 (GRCm39)	N47K	probably damaging	Het
Nckap1	G	T	2: 80,375,321 (GRCm39)		probably benign	Het
Nlrp1a	C	A	11: 71,014,501 (GRCm39)	G250W	probably damaging	Het
Nol4l	T	A	2: 153,253,672 (GRCm39)	S390C	probably benign	Het
Or2ag2b	T	C	7: 106,417,908 (GRCm39)	F206S	probably benign	Het
Or52e18	T	A	7: 104,609,388 (GRCm39)	M184L	probably damaging	Het
Or5ak22	T	C	2: 85,230,685 (GRCm39)	Q64R	possibly damaging	Het
Or5h26	G	A	16: 58,988,269 (GRCm39)	P79L	possibly damaging	Het
Plec	G	T	15: 76,061,367 (GRCm39)	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,425,568 (GRCm39)	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,164 (GRCm39)	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,718,019 (GRCm39)	P98S	probably damaging	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc6a16	C	T	7: 44,908,672 (GRCm39)	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,728,170 (GRCm39)	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,185,218 (GRCm39)	V953I	probably benign	Het
Spata31f1a	T	C	4: 42,851,116 (GRCm39)	I347V	probably benign	Het
St7l	T	C	3: 104,803,125 (GRCm39)		probably benign	Het
Stap2	A	G	17: 56,307,097 (GRCm39)	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,108,670 (GRCm39)	D215E	probably damaging	Het
Synm	C	T	7: 67,385,569 (GRCm39)	V256I	probably benign	Het
Syt13	A	C	2: 92,776,412 (GRCm39)	E233A	possibly damaging	Het
Tecta	T	A	9: 42,295,514 (GRCm39)	E327V	probably damaging	Het
Tent5b	A	T	4: 133,213,522 (GRCm39)	Q131L	probably benign	Het
Themis3	A	T	17: 66,866,540 (GRCm39)		probably null	Het
Ttll13	T	A	7: 79,897,084 (GRCm39)	D14E	probably benign	Het
Tubb2a	A	C	13: 34,260,620 (GRCm39)	D26E	probably benign	Het
Ubr1	T	C	2: 120,734,584 (GRCm39)		probably null	Het
Vps13d	A	T	4: 144,844,195 (GRCm39)	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,829,056 (GRCm39)	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,123,604 (GRCm39)	I121T	probably damaging	Het

Other mutations in 1700129C05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:1700129C05Rik	APN	14	59,380,252 (GRCm39)	missense	possibly damaging	0.85
IGL02960:1700129C05Rik	APN	14	59,380,257 (GRCm39)	missense	probably benign	0.11
PIT4402001:1700129C05Rik	UTSW	14	59,380,084 (GRCm39)	missense	probably damaging	0.99
R0226:1700129C05Rik	UTSW	14	59,379,569 (GRCm39)	missense	possibly damaging	0.92
R0324:1700129C05Rik	UTSW	14	59,380,256 (GRCm39)	missense	probably damaging	0.99
R2251:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R2252:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R2253:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R5574:1700129C05Rik	UTSW	14	59,380,205 (GRCm39)	missense	possibly damaging	0.59
R7572:1700129C05Rik	UTSW	14	59,380,128 (GRCm39)	missense	possibly damaging	0.95
R8346:1700129C05Rik	UTSW	14	59,380,221 (GRCm39)	missense	probably damaging	0.99
R8394:1700129C05Rik	UTSW	14	59,379,623 (GRCm39)	missense	probably benign
X0063:1700129C05Rik	UTSW	14	59,377,498 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CTCAAATGTGCAGCAGAAGTGGC -3'
(R):5'- AGGGGCAAATCAGTGATCTTGGTG -3'

Sequencing Primer
(F):5'- TGTGTTCCTAGCCAGGACAG -3'
(R):5'- GTCACACTGAAAGGCCTCAA -3'

Posted On

2013-05-23