Mutagenetix > Incidental Mutation

Incidental Mutation 'R7877:1700010I14Rik'

608537

Institutional Source

Beutler Lab

Gene Symbol

1700010I14Rik

Ensembl Gene

ENSMUSG00000023873

Gene Name

RIKEN cDNA 1700010I14 gene

Synonyms

MMRRC Submission

045929-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7877 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

9207152-9227151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9220665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 388 (C388Y)

Ref Sequence

ENSEMBL: ENSMUSP00000024650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024650] [ENSMUST00000151609]

AlphaFold

Q7TPG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000024650
AA Change: C388Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: C388Y

Domain	Start	End	E-Value	Type
coiled coil region	135	165	N/A	INTRINSIC
Pfam:TSNAXIP1_N	239	349	6.1e-36	PFAM
low complexity region	351	364	N/A	INTRINSIC
low complexity region	372	385	N/A	INTRINSIC
coiled coil region	421	466	N/A	INTRINSIC
low complexity region	501	519	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151609
AA Change: C388Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: C388Y

Domain	Start	End	E-Value	Type
coiled coil region	135	165	N/A	INTRINSIC
coiled coil region	321	370	N/A	INTRINSIC
low complexity region	372	385	N/A	INTRINSIC
coiled coil region	421	466	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,884,230 (GRCm39)	H543Y	probably damaging	Het
Abca1	A	T	4: 53,046,135 (GRCm39)	V1711E	possibly damaging	Het
Abca3	A	T	17: 24,602,997 (GRCm39)	K531*	probably null	Het
Adgrf5	A	T	17: 43,752,729 (GRCm39)	D557V	possibly damaging	Het
Adgrl3	A	G	5: 81,842,467 (GRCm39)	E865G	probably benign	Het
Adprhl1	T	A	8: 13,275,316 (GRCm39)	R481*	probably null	Het
Afap1l1	T	A	18: 61,879,853 (GRCm39)	D339V	probably damaging	Het
Atp9b	T	A	18: 80,890,412 (GRCm39)	H309L		Het
Baiap3	A	G	17: 25,470,112 (GRCm39)	V122A	probably damaging	Het
Btg4	T	C	9: 51,029,240 (GRCm39)	S142P	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdca2	T	A	14: 67,914,665 (GRCm39)	T865S	probably benign	Het
Cdk12	A	G	11: 98,131,661 (GRCm39)	Y964C	unknown	Het
Cenpo	A	T	12: 4,264,573 (GRCm39)	F273Y	probably damaging	Het
Cfap96	T	A	8: 46,423,436 (GRCm39)	K92M	probably damaging	Het
Chac1	T	A	2: 119,183,987 (GRCm39)	D196E	probably damaging	Het
Clec4n	T	C	6: 123,209,063 (GRCm39)	F43L	probably benign	Het
Colgalt1	T	A	8: 72,074,508 (GRCm39)	C407S	probably damaging	Het
Csnk1g1	T	A	9: 65,906,830 (GRCm39)		probably null	Het
Cyp2b23	T	A	7: 26,385,851 (GRCm39)	E2V	probably damaging	Het
Cyp51	T	A	5: 4,152,929 (GRCm39)	K91M	probably damaging	Het
Cyria	A	C	12: 12,414,798 (GRCm39)	Y263S	probably benign	Het
Dnah8	G	T	17: 30,882,348 (GRCm39)	G640V	probably benign	Het
Dnajc2	G	T	5: 21,965,637 (GRCm39)	S505R	possibly damaging	Het
Fam124b	A	T	1: 80,191,053 (GRCm39)	L110H	probably damaging	Het
Fem1b	T	A	9: 62,703,844 (GRCm39)	Y472F	probably benign	Het
Frem1	A	G	4: 82,932,049 (GRCm39)		probably null	Het
Gabrg1	A	T	5: 70,973,415 (GRCm39)	D46E	probably damaging	Het
Gbp4	T	C	5: 105,266,161 (GRCm39)	K627E	probably benign	Het
Glis1	A	G	4: 107,491,900 (GRCm39)	D776G	probably damaging	Het
Gm4847	A	G	1: 166,467,575 (GRCm39)	V207A	possibly damaging	Het
Gm7298	T	A	6: 121,759,741 (GRCm39)	Y1213*	probably null	Het
Gm8229	T	A	14: 44,604,033 (GRCm39)	L74*	probably null	Het
Hc	A	T	2: 34,887,411 (GRCm39)	Y1364*	probably null	Het
Hnrnpa2b1	A	T	6: 51,443,302 (GRCm39)	S186R	unknown	Het
Hrh4	A	G	18: 13,155,582 (GRCm39)	I374V	possibly damaging	Het
Ighmbp2	A	G	19: 3,311,490 (GRCm39)	L975P	probably damaging	Het
Intu	G	A	3: 40,654,222 (GRCm39)	V905I	probably benign	Het
Large1	T	A	8: 73,843,071 (GRCm39)	R151W	probably damaging	Het
Limd2	G	A	11: 106,050,004 (GRCm39)	T24M	probably benign	Het
Med16	A	T	10: 79,734,206 (GRCm39)	C569*	probably null	Het
Mettl1	T	G	10: 126,880,390 (GRCm39)	V104G	possibly damaging	Het
Mgat4c	A	G	10: 102,220,900 (GRCm39)	T61A	probably benign	Het
Mrps31	T	A	8: 22,914,367 (GRCm39)	Y238N	probably benign	Het
Mrs2	T	C	13: 25,181,113 (GRCm39)	E236G	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Noxred1	G	A	12: 87,271,761 (GRCm39)	A136V	probably benign	Het
Obscn	T	A	11: 59,024,588 (GRCm39)	D484V	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pik3r5	G	A	11: 68,381,431 (GRCm39)	G206R	probably damaging	Het
Plekhh2	G	A	17: 84,882,434 (GRCm39)	C680Y	probably benign	Het
Plxna1	A	G	6: 89,300,241 (GRCm39)	F1614S	probably damaging	Het
Ppip5k1	T	C	2: 121,147,235 (GRCm39)	M1129V	probably benign	Het
Prp2	C	T	6: 132,572,928 (GRCm39)	T7I	unknown	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Slc17a6	T	A	7: 51,275,253 (GRCm39)	I104N	probably benign	Het
Slc35c1	A	T	2: 92,289,402 (GRCm39)	W48R	probably damaging	Het
Slc5a4b	A	T	10: 75,910,886 (GRCm39)	C317S	probably damaging	Het
Smim13	G	T	13: 41,403,650 (GRCm39)		probably benign	Het
Snrpg	T	C	6: 86,355,761 (GRCm39)	V76A	probably benign	Het
Sntb2	C	T	8: 107,738,164 (GRCm39)	T509I	probably benign	Het
Sptbn1	T	C	11: 30,079,601 (GRCm39)	D1276G	possibly damaging	Het
Sptbn2	A	G	19: 4,794,290 (GRCm39)	E1498G	possibly damaging	Het
Stau1	T	A	2: 166,792,787 (GRCm39)	N393Y	possibly damaging	Het
Tars2	A	T	3: 95,653,401 (GRCm39)	S500T	probably damaging	Het
Tbc1d23	A	T	16: 56,993,488 (GRCm39)	D559E	probably benign	Het
Trav14-2	T	C	14: 53,878,508 (GRCm39)	Y64H	possibly damaging	Het
Trpm3	A	C	19: 22,882,148 (GRCm39)	E838D	probably benign	Het
Vmn1r23	G	A	6: 57,903,541 (GRCm39)	A79V	probably benign	Het
Vmn1r48	G	T	6: 90,013,431 (GRCm39)	N131K	probably benign	Het
Vmn2r18	A	T	5: 151,508,437 (GRCm39)	M229K	probably damaging	Het
Zbtb4	G	A	11: 69,666,863 (GRCm39)	R56K	probably benign	Het
Zfp616	G	T	11: 73,975,188 (GRCm39)	G486W	probably damaging	Het
Zkscan8	A	T	13: 21,704,580 (GRCm39)	F453Y	possibly damaging	Het

Other mutations in 1700010I14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:1700010I14Rik	APN	17	9,215,937 (GRCm39)	critical splice donor site	probably null
IGL01569:1700010I14Rik	APN	17	9,215,827 (GRCm39)	missense	probably benign	0.33
IGL03024:1700010I14Rik	APN	17	9,212,464 (GRCm39)	missense	probably benign	0.33
IGL03410:1700010I14Rik	APN	17	9,220,728 (GRCm39)	missense	probably damaging	1.00
R0017:1700010I14Rik	UTSW	17	9,226,938 (GRCm39)	utr 3 prime	probably benign
R0017:1700010I14Rik	UTSW	17	9,226,938 (GRCm39)	utr 3 prime	probably benign
R0324:1700010I14Rik	UTSW	17	9,219,989 (GRCm39)	missense	probably benign	0.33
R0361:1700010I14Rik	UTSW	17	9,211,378 (GRCm39)	missense	probably benign	0.39
R0482:1700010I14Rik	UTSW	17	9,207,255 (GRCm39)	critical splice donor site	probably null
R0529:1700010I14Rik	UTSW	17	9,211,228 (GRCm39)	missense	probably benign	0.32
R1102:1700010I14Rik	UTSW	17	9,211,460 (GRCm39)	missense	probably damaging	1.00
R1964:1700010I14Rik	UTSW	17	9,211,324 (GRCm39)	missense	probably damaging	0.99
R3620:1700010I14Rik	UTSW	17	9,226,864 (GRCm39)	missense	probably benign	0.15
R4259:1700010I14Rik	UTSW	17	9,214,066 (GRCm39)	missense	probably damaging	1.00
R4261:1700010I14Rik	UTSW	17	9,214,066 (GRCm39)	missense	probably damaging	1.00
R4687:1700010I14Rik	UTSW	17	9,210,985 (GRCm39)	missense	probably damaging	1.00
R4707:1700010I14Rik	UTSW	17	9,224,544 (GRCm39)	missense	probably damaging	1.00
R4839:1700010I14Rik	UTSW	17	9,226,845 (GRCm39)	missense	probably benign	0.41
R4979:1700010I14Rik	UTSW	17	9,220,643 (GRCm39)	missense	probably damaging	1.00
R5225:1700010I14Rik	UTSW	17	9,226,839 (GRCm39)	nonsense	probably null
R5383:1700010I14Rik	UTSW	17	9,211,532 (GRCm39)	missense	possibly damaging	0.86
R6031:1700010I14Rik	UTSW	17	9,214,084 (GRCm39)	missense	possibly damaging	0.85
R6031:1700010I14Rik	UTSW	17	9,214,084 (GRCm39)	missense	possibly damaging	0.85
R6505:1700010I14Rik	UTSW	17	9,220,772 (GRCm39)	missense	probably benign	0.08
R6736:1700010I14Rik	UTSW	17	9,211,100 (GRCm39)	missense	probably benign	0.01
R7089:1700010I14Rik	UTSW	17	9,226,927 (GRCm39)	missense	probably benign	0.00
R7097:1700010I14Rik	UTSW	17	9,224,052 (GRCm39)	missense	probably damaging	1.00
R7292:1700010I14Rik	UTSW	17	9,215,861 (GRCm39)	nonsense	probably null
R7405:1700010I14Rik	UTSW	17	9,220,649 (GRCm39)	missense	probably damaging	0.99
R7567:1700010I14Rik	UTSW	17	9,226,838 (GRCm39)	missense	probably damaging	1.00
R8794:1700010I14Rik	UTSW	17	9,226,939 (GRCm39)	missense	unknown
R8805:1700010I14Rik	UTSW	17	9,226,737 (GRCm39)	nonsense	probably null
R9007:1700010I14Rik	UTSW	17	9,226,935 (GRCm39)	missense	probably benign	0.01
R9308:1700010I14Rik	UTSW	17	9,220,667 (GRCm39)	nonsense	probably null
R9400:1700010I14Rik	UTSW	17	9,211,118 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGATTACCCTGTTTCTTTGGAAC -3'
(R):5'- ACGTAGCCACCTCAGCTATTG -3'

Sequencing Primer
(F):5'- AATCTGTTTGAGTGACACTAAGC -3'
(R):5'- TAGCCACCTCAGCTATTGAAGGG -3'

Posted On

2019-12-20