Mutagenetix > Incidental Mutation

Incidental Mutation 'R7572:1700129C05Rik'

586102

Institutional Source

Beutler Lab

Gene Symbol

1700129C05Rik

Ensembl Gene

ENSMUSG00000021977

Gene Name

RIKEN cDNA 1700129C05 gene

Synonyms

MMRRC Submission

045658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7572 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59370489-59380342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59380128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 57 (T57S)

Ref Sequence

ENSEMBL: ENSMUSP00000022548 (fasta)

Gene Model

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

AlphaFold

Q9CQ77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022548
AA Change: T57S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: T57S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159858
AA Change: T57S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: T57S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162271

Predicted Effect

probably benign
Transcript: ENSMUST00000162674

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,594,629 (GRCm39)	Y670H	possibly damaging	Het
Akr1b7	A	T	6: 34,396,343 (GRCm39)	I185F	probably damaging	Het
Ankfn1	T	C	11: 89,312,097 (GRCm39)	N683D	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Chrna5	T	A	9: 54,913,749 (GRCm39)	W432R	probably damaging	Het
Chrng	T	A	1: 87,136,836 (GRCm39)	L235Q	probably damaging	Het
Ciao1	A	T	2: 127,088,631 (GRCm39)	C97*	probably null	Het
Cpt2	G	T	4: 107,764,745 (GRCm39)	H340N	probably damaging	Het
Dmtn	A	T	14: 70,842,777 (GRCm39)	M328K	possibly damaging	Het
Dusp10	T	A	1: 183,806,506 (GRCm39)	V413E	probably damaging	Het
Epha3	A	T	16: 63,431,443 (GRCm39)	L487*	probably null	Het
Esco2	A	G	14: 66,068,641 (GRCm39)	V223A	probably damaging	Het
Fryl	A	T	5: 73,245,739 (GRCm39)	D1139E	possibly damaging	Het
Gemin4	A	G	11: 76,104,408 (GRCm39)	S118P	probably damaging	Het
Gm3604	A	G	13: 62,518,060 (GRCm39)	I79T	probably damaging	Het
Gpatch3	T	C	4: 133,302,117 (GRCm39)	V16A	probably benign	Het
Hcn4	A	G	9: 58,731,063 (GRCm39)	N90S	unknown	Het
Hr	C	T	14: 70,799,293 (GRCm39)	H593Y	possibly damaging	Het
Igkv4-50	A	G	6: 69,677,951 (GRCm39)	V51A	probably damaging	Het
Insr	C	A	8: 3,223,602 (GRCm39)	V844F	probably benign	Het
Iqcn	T	C	8: 71,162,075 (GRCm39)	S423P	probably benign	Het
Kcns2	T	C	15: 34,839,318 (GRCm39)	F227S	possibly damaging	Het
Map4k1	A	G	7: 28,686,563 (GRCm39)	I162V	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurog2	A	G	3: 127,427,550 (GRCm39)	E58G	probably damaging	Het
Or4x6	T	C	2: 89,949,087 (GRCm39)	Y285C	probably damaging	Het
Or5h25	T	A	16: 58,930,793 (GRCm39)	Y60F	probably damaging	Het
Or7e174	T	G	9: 20,012,154 (GRCm39)	L33W	probably damaging	Het
Orc4	A	T	2: 48,800,248 (GRCm39)	M300K	probably benign	Het
Plch1	T	C	3: 63,648,105 (GRCm39)	D422G	possibly damaging	Het
Prox1	T	C	1: 189,855,583 (GRCm39)	E683G	probably benign	Het
Pxdn	A	G	12: 30,056,704 (GRCm39)	D1305G	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rex2	T	G	4: 147,142,329 (GRCm39)	I272M	probably damaging	Het
Rpa2	T	C	4: 132,496,014 (GRCm39)	S12P	possibly damaging	Het
Samd15	C	A	12: 87,248,350 (GRCm39)	P345Q	probably damaging	Het
Sema5a	T	A	15: 32,673,574 (GRCm39)	I804N	probably damaging	Het
Sgsm3	G	A	15: 80,891,667 (GRCm39)	R165H	possibly damaging	Het
Slc22a30	T	G	19: 8,313,072 (GRCm39)	M467L	unknown	Het
Slc2a5	T	C	4: 150,226,642 (GRCm39)	I368T	probably benign	Het
Slc8a1	A	T	17: 81,749,200 (GRCm39)		probably null	Het
Snap91	T	C	9: 86,688,547 (GRCm39)	T331A	possibly damaging	Het
Soat2	G	T	15: 102,062,456 (GRCm39)		probably null	Het
Sptbn4	C	A	7: 27,071,697 (GRCm39)	R1589L	probably damaging	Het
Stk38l	A	G	6: 146,677,152 (GRCm39)	Y443C	probably damaging	Het
Sult5a1	T	C	8: 123,872,117 (GRCm39)	I242V	probably benign	Het
Susd3	T	C	13: 49,384,638 (GRCm39)	R262G	probably benign	Het
Syt9	A	G	7: 107,035,784 (GRCm39)	D267G	probably damaging	Het
Tbce	A	G	13: 14,185,172 (GRCm39)	V172A	probably benign	Het
Tcstv3	A	T	13: 120,779,107 (GRCm39)	D2V	possibly damaging	Het
Tmod1	T	A	4: 46,083,593 (GRCm39)	S7R	possibly damaging	Het
Ubqln4	C	T	3: 88,462,731 (GRCm39)		probably benign	Het
Ucp2	T	C	7: 100,146,514 (GRCm39)		probably null	Het
Usp30	G	A	5: 114,258,308 (GRCm39)	S306N	probably benign	Het
Usp5	A	T	6: 124,794,970 (GRCm39)	I660N	probably damaging	Het
Vmn1r43	A	G	6: 89,846,547 (GRCm39)	V313A	possibly damaging	Het
Wdr49	T	C	3: 75,265,744 (GRCm39)	H234R	possibly damaging	Het
Wdr70	T	C	15: 8,065,327 (GRCm39)	D245G	possibly damaging	Het
Zc3h6	A	G	2: 128,859,172 (GRCm39)	K1068E	probably benign	Het
Zfp141	T	C	7: 42,124,856 (GRCm39)	K539E	probably benign	Het
Zfp758	T	A	17: 22,593,872 (GRCm39)	H119Q	possibly 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
R0345:1700129C05Rik	UTSW	14	59,377,079 (GRCm39)	missense	possibly damaging	0.66
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
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'- CTATCCAGCAGTGCTCTTGGAG -3'
(R):5'- AACTGCCACATCAGGTCTGG -3'

Sequencing Primer
(F):5'- TCTTGGAGAAGAGGTAGACATGAG -3'
(R):5'- TGGCCTAGCTCAGTCAGTAAC -3'

Posted On

2019-10-24