Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:1700123L14Rik'

218141

Institutional Source

Beutler Lab

Gene Symbol

1700123L14Rik

Ensembl Gene

ENSMUSG00000072878

Gene Name

RIKEN cDNA 1700123L14 gene

Synonyms

MMRRC Submission

039973-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R1959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96164497-96166243 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96165269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 265 (S265P)

Ref Sequence

ENSEMBL: ENSMUSP00000087515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075080] [ENSMUST00000090061] [ENSMUST00000122120]

AlphaFold

Q3V2K7

Predicted Effect

probably benign
Transcript: ENSMUST00000075080

SMART Domains

Protein: ENSMUSP00000074589
Gene: ENSMUSG00000059187

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:TAFA	40	129	3.9e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090061
AA Change: S265P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: S265P

Domain	Start	End	E-Value	Type
Pfam:NUP50	2	73	1.8e-15	PFAM
low complexity region	84	94	N/A	INTRINSIC
RanBD	315	438	2.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122120

SMART Domains

Protein: ENSMUSP00000113152
Gene: ENSMUSG00000059187

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:TAFA	41	129	4e-50	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,396,393 (GRCm38)	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193 (GRCm38)		probably null	Het
Adap1	A	G	5: 139,273,341 (GRCm38)	Y364H	probably benign	Het
Add2	T	C	6: 86,096,756 (GRCm38)	F209S	probably damaging	Het
Adgb	A	T	10: 10,395,249 (GRCm38)	D883E	probably benign	Het
Als2cr12	A	T	1: 58,659,278 (GRCm38)	V327D	possibly damaging	Het
Anapc1	C	A	2: 128,633,415 (GRCm38)	R1381S	probably benign	Het
Aoah	A	G	13: 20,794,394 (GRCm38)	M1V	probably null	Het
Arap1	C	A	7: 101,373,015 (GRCm38)	A8E	probably damaging	Het
Arhgap10	A	G	8: 77,409,626 (GRCm38)	F319S	possibly damaging	Het
Btrc	T	G	19: 45,527,343 (GRCm38)	I480S	probably damaging	Het
Cabin1	A	T	10: 75,735,090 (GRCm38)	V784E	possibly damaging	Het
Card9	T	A	2: 26,354,873 (GRCm38)		probably null	Het
Cdk18	A	G	1: 132,117,821 (GRCm38)	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,350,481 (GRCm38)	T21P	possibly damaging	Het
Commd3	A	T	2: 18,673,963 (GRCm38)	I70F	probably benign	Het
Cspg5	G	A	9: 110,251,026 (GRCm38)	V340M	probably damaging	Het
Cyb5r4	G	A	9: 87,055,849 (GRCm38)	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377 (GRCm38)	F230I	probably damaging	Het
Ddx11	A	G	17: 66,130,728 (GRCm38)	M150V	probably benign	Het
Dennd4b	A	G	3: 90,268,773 (GRCm38)	Y190C	probably damaging	Het
Det1	A	G	7: 78,843,443 (GRCm38)	V271A	probably benign	Het
Dgkd	C	A	1: 87,929,827 (GRCm38)	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,479,385 (GRCm38)	S649G	probably benign	Het
Dlgap5	A	G	14: 47,416,386 (GRCm38)	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,720,559 (GRCm38)	M724V	probably benign	Het
Dnah7a	A	G	1: 53,684,983 (GRCm38)	S108P	probably benign	Het
Dock4	A	T	12: 40,710,798 (GRCm38)	K495M	probably damaging	Het
Dse	A	G	10: 34,160,206 (GRCm38)	Y225H	probably damaging	Het
Emx1	G	A	6: 85,203,934 (GRCm38)	R211K	probably damaging	Het
Ergic2	A	G	6: 148,199,354 (GRCm38)		probably null	Het
Fbxo27	G	A	7: 28,698,372 (GRCm38)	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,376,520 (GRCm38)	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,450,807 (GRCm38)	E261G	probably benign	Het
Flnb	C	T	14: 7,884,735 (GRCm38)	Q445*	probably null	Het
Flrt2	G	A	12: 95,780,300 (GRCm38)	V471I	probably benign	Het
Frmd4a	G	A	2: 4,535,186 (GRCm38)	V210M	probably damaging	Het
Fsip2	A	G	2: 82,991,550 (GRCm38)	K5876E	probably benign	Het
Galnt10	T	C	11: 57,765,617 (GRCm38)	L209P	probably damaging	Het
Gata5	A	T	2: 180,326,936 (GRCm38)	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,794,413 (GRCm38)	V194L	probably damaging	Het
Gm10803	T	G	2: 93,563,943 (GRCm38)	V20G	unknown	Het
Gm44511	T	G	6: 128,820,271 (GRCm38)	T52P	probably damaging	Het
Gpat4	A	T	8: 23,182,936 (GRCm38)	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,718,007 (GRCm38)	I240L	probably benign	Het
Hivep2	A	T	10: 14,132,709 (GRCm38)	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,649,676 (GRCm38)	T3366A	probably benign	Het
Hnmt	A	G	2: 24,003,882 (GRCm38)	V200A	possibly damaging	Het
Hps6	A	T	19: 46,004,335 (GRCm38)	H237L	probably benign	Het
Hspg2	C	T	4: 137,564,895 (GRCm38)	P4033S	probably damaging	Het
Irf9	T	A	14: 55,607,717 (GRCm38)	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,812,395 (GRCm38)	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,970,848 (GRCm38)	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123 (GRCm38)	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,851,547 (GRCm38)	V9A	unknown	Het
Lama2	G	T	10: 27,422,618 (GRCm38)	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,329,018 (GRCm38)	P273L	unknown	Het
Lvrn	T	A	18: 46,894,717 (GRCm38)	S866R	probably damaging	Het
Med13	A	G	11: 86,298,979 (GRCm38)	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,759,090 (GRCm38)	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437 (GRCm38)	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,462,911 (GRCm38)	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,315,701 (GRCm38)	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,349,638 (GRCm38)	I56N	probably damaging	Het
Muc5b	T	C	7: 141,862,637 (GRCm38)	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,160,252 (GRCm38)	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,327,738 (GRCm38)	E553G	probably damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,924,113 (GRCm38)		probably benign	Het
Nr2f1	T	C	13: 78,189,816 (GRCm38)	T237A	probably damaging	Het
Nup205	C	A	6: 35,233,366 (GRCm38)	Q1621K	probably benign	Het
Nxpe2	T	A	9: 48,319,726 (GRCm38)	S448C	probably benign	Het
Ogdh	T	A	11: 6,346,638 (GRCm38)	C498S	possibly damaging	Het
Olfr1176	T	C	2: 88,340,201 (GRCm38)	L212P	probably damaging	Het
Olfr281	T	C	15: 98,456,753 (GRCm38)	S148P	probably damaging	Het
Olfr294	A	T	7: 86,616,431 (GRCm38)	F71L	probably benign	Het
Olfr414	A	T	1: 174,430,905 (GRCm38)	K159M	probably damaging	Het
Olfr697	T	C	7: 106,741,394 (GRCm38)	E180G	probably damaging	Het
Olfr715	A	T	7: 107,128,510 (GRCm38)	D294E	possibly damaging	Het
Olfr994	T	C	2: 85,430,619 (GRCm38)	D70G	probably damaging	Het
Oplah	G	A	15: 76,297,464 (GRCm38)	T1119I	probably damaging	Het
Pcdhb9	T	A	18: 37,403,316 (GRCm38)	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,433,418 (GRCm38)	D1870G	unknown	Het
Pde6g	A	G	11: 120,448,136 (GRCm38)	L76P	probably damaging	Het
Peak1	A	T	9: 56,206,789 (GRCm38)	Y593N	probably damaging	Het
Pfas	C	T	11: 68,994,284 (GRCm38)	G16R	probably damaging	Het
Pkd1l2	A	T	8: 117,043,231 (GRCm38)		probably null	Het
Pla2g3	C	T	11: 3,490,983 (GRCm38)	T316I	probably benign	Het
Ptpru	T	A	4: 131,803,477 (GRCm38)	I489F	probably damaging	Het
Rere	T	G	4: 150,468,790 (GRCm38)	H146Q	probably benign	Het
Rundc1	A	T	11: 101,431,496 (GRCm38)	Q272L	probably damaging	Het
Scml4	T	C	10: 42,956,021 (GRCm38)	L305P	probably damaging	Het
Sec16a	A	T	2: 26,430,132 (GRCm38)	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,853,800 (GRCm38)	Q373*	probably null	Het
Shank1	A	T	7: 44,325,377 (GRCm38)	N377I	unknown	Het
Shc2	T	C	10: 79,626,791 (GRCm38)		probably null	Het
Slc22a29	C	A	19: 8,169,193 (GRCm38)	R415M	probably benign	Het
Slc7a2	A	T	8: 40,914,965 (GRCm38)	I589F	probably damaging	Het
Smim8	C	T	4: 34,771,316 (GRCm38)	R26Q	probably damaging	Het
Smox	C	A	2: 131,520,464 (GRCm38)	A221D	probably damaging	Het
Sox5	A	G	6: 143,874,105 (GRCm38)	S62P	possibly damaging	Het
Spg21	A	C	9: 65,484,492 (GRCm38)	K240N	probably damaging	Het
Sv2c	C	T	13: 95,976,645 (GRCm38)	V599M	probably damaging	Het
Tanc2	T	A	11: 105,910,295 (GRCm38)	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,175,844 (GRCm38)	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419 (GRCm38)	Y842S	probably benign	Het
Tctn1	A	T	5: 122,241,840 (GRCm38)		probably null	Het
Tenm1	T	C	X: 42,827,201 (GRCm38)	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,669,389 (GRCm38)	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,126,164 (GRCm38)	L99I	probably benign	Het
Top2a	T	C	11: 98,995,977 (GRCm38)		probably null	Het
Traf7	C	A	17: 24,513,281 (GRCm38)	G191C	probably damaging	Het
Trpm1	T	A	7: 64,230,230 (GRCm38)	L661Q	probably damaging	Het
Ttc30b	C	T	2: 75,937,099 (GRCm38)	E437K	probably benign	Het
Ttn	T	C	2: 76,750,623 (GRCm38)	I23309V	probably benign	Het
Usp50	T	C	2: 126,777,961 (GRCm38)	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,136,513 (GRCm38)	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,457,440 (GRCm38)	T459K	probably benign	Het
Vps13a	T	G	19: 16,677,938 (GRCm38)	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,602,191 (GRCm38)		probably null	Het
Vwa8	A	G	14: 78,982,360 (GRCm38)	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,969,247 (GRCm38)	I648M	probably damaging	Het
Zfat	G	C	15: 68,146,543 (GRCm38)	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,423,253 (GRCm38)	I1601K	probably benign	Het
Zfp239	A	G	6: 117,871,817 (GRCm38)	K172R	probably benign	Het
Zfp335	C	T	2: 164,894,802 (GRCm38)	G971D	probably damaging	Het
Zfp532	A	T	18: 65,624,492 (GRCm38)	I499F	probably damaging	Het
Zfp647	T	C	15: 76,911,114 (GRCm38)	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,225,631 (GRCm38)	G385D	probably damaging	Het
Zfp959	T	G	17: 55,897,404 (GRCm38)	V147G	probably damaging	Het
Znfx1	A	T	2: 167,050,350 (GRCm38)	C649S	probably damaging	Het

Other mutations in 1700123L14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:1700123L14Rik	APN	6	96,165,694 (GRCm38)	missense	possibly damaging	0.48
IGL02347:1700123L14Rik	APN	6	96,165,530 (GRCm38)	missense	probably damaging	1.00
IGL02532:1700123L14Rik	APN	6	96,164,790 (GRCm38)	missense	probably damaging	0.99
PIT4283001:1700123L14Rik	UTSW	6	96,165,715 (GRCm38)	missense	probably benign
R0282:1700123L14Rik	UTSW	6	96,164,816 (GRCm38)	missense	probably benign	0.02
R0946:1700123L14Rik	UTSW	6	96,165,696 (GRCm38)	missense	possibly damaging	0.68
R1275:1700123L14Rik	UTSW	6	96,165,118 (GRCm38)	missense	probably benign	0.03
R1605:1700123L14Rik	UTSW	6	96,164,812 (GRCm38)	missense	probably benign	0.34
R1610:1700123L14Rik	UTSW	6	96,165,289 (GRCm38)	missense	probably damaging	0.98
R1961:1700123L14Rik	UTSW	6	96,165,269 (GRCm38)	missense	possibly damaging	0.73
R2116:1700123L14Rik	UTSW	6	96,164,860 (GRCm38)	missense	probably damaging	0.99
R3708:1700123L14Rik	UTSW	6	96,165,952 (GRCm38)	missense	possibly damaging	0.92
R4157:1700123L14Rik	UTSW	6	96,165,283 (GRCm38)	missense	possibly damaging	0.86
R4285:1700123L14Rik	UTSW	6	96,165,752 (GRCm38)	missense	probably benign	0.07
R4571:1700123L14Rik	UTSW	6	96,164,881 (GRCm38)	missense	probably damaging	1.00
R4884:1700123L14Rik	UTSW	6	96,164,812 (GRCm38)	missense	probably damaging	1.00
R4905:1700123L14Rik	UTSW	6	96,165,930 (GRCm38)	missense	possibly damaging	0.77
R6454:1700123L14Rik	UTSW	6	96,165,628 (GRCm38)	missense	possibly damaging	0.75
R6755:1700123L14Rik	UTSW	6	96,164,972 (GRCm38)	missense	probably benign	0.06
R6790:1700123L14Rik	UTSW	6	96,165,323 (GRCm38)	missense	probably benign
R6792:1700123L14Rik	UTSW	6	96,165,115 (GRCm38)	missense	possibly damaging	0.92
R6931:1700123L14Rik	UTSW	6	96,165,548 (GRCm38)	missense	possibly damaging	0.86
R7081:1700123L14Rik	UTSW	6	96,165,817 (GRCm38)	missense	possibly damaging	0.68
R7194:1700123L14Rik	UTSW	6	96,164,775 (GRCm38)	missense	probably benign	0.04
R7584:1700123L14Rik	UTSW	6	96,165,392 (GRCm38)	missense	probably benign	0.41
R7938:1700123L14Rik	UTSW	6	96,164,885 (GRCm38)	missense	possibly damaging	0.66
R7983:1700123L14Rik	UTSW	6	96,165,907 (GRCm38)	missense	probably damaging	0.96
R8052:1700123L14Rik	UTSW	6	96,165,103 (GRCm38)	intron	probably benign
R8052:1700123L14Rik	UTSW	6	96,165,097 (GRCm38)	intron	probably benign
R8303:1700123L14Rik	UTSW	6	96,165,721 (GRCm38)	missense	probably benign	0.41
R8351:1700123L14Rik	UTSW	6	96,165,674 (GRCm38)	missense	probably benign	0.12
R8785:1700123L14Rik	UTSW	6	96,164,890 (GRCm38)	missense	possibly damaging	0.87
R8827:1700123L14Rik	UTSW	6	96,165,312 (GRCm38)	missense	probably benign	0.00
R9280:1700123L14Rik	UTSW	6	96,165,001 (GRCm38)	missense	probably damaging	1.00
R9403:1700123L14Rik	UTSW	6	96,165,299 (GRCm38)	missense	probably benign	0.01
R9470:1700123L14Rik	UTSW	6	96,165,493 (GRCm38)	missense	possibly damaging	0.56
R9600:1700123L14Rik	UTSW	6	96,165,175 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CACTTCTTGCAGTAGAAAGCAC -3'
(R):5'- TCAGAAAGCGAGCCTAACCG -3'

Sequencing Primer
(F):5'- GAAAGCACTTTCCTCCTCCTC -3'
(R):5'- CCTAACCGGGGCTTTGTTGC -3'

Posted On

2014-08-01