Mutagenetix > Incidental Mutation

Incidental Mutation 'R7799:1110002E22Rik'

600416

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

045854-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R7799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137770813-137787267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137775362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1517 (V1517A)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053318

Predicted Effect

probably benign
Transcript: ENSMUST00000163080
AA Change: V1517A

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1517A

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	229	247	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	459	505	N/A	INTRINSIC
low complexity region	667	680	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC
low complexity region	995	1007	N/A	INTRINSIC
low complexity region	1105	1115	N/A	INTRINSIC
low complexity region	1224	1242	N/A	INTRINSIC
low complexity region	1376	1385	N/A	INTRINSIC
Pfam:DUF4585	1598	1667	6.9e-32	PFAM
low complexity region	1723	1738	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	C	A	12: 21,390,493 (GRCm39)	G410C	probably damaging	Het
Adcy3	A	G	12: 4,254,762 (GRCm39)	D698G	probably damaging	Het
Afap1	T	A	5: 36,131,742 (GRCm39)	N356K	possibly damaging	Het
Afm	A	G	5: 90,671,713 (GRCm39)	N132D	probably benign	Het
Bsdc1	T	A	4: 129,359,141 (GRCm39)		probably null	Het
Ccdc121rt2	T	G	5: 112,597,698 (GRCm39)	Y82D	not run	Het
Ccdc47	T	C	11: 106,101,143 (GRCm39)	E173G	possibly damaging	Het
Cit	T	G	5: 116,001,027 (GRCm39)	F142C	probably benign	Het
Cnga3	A	G	1: 37,300,852 (GRCm39)	D524G	probably damaging	Het
Cpne8	T	A	15: 90,424,450 (GRCm39)	D313V	probably damaging	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Flrt1	C	A	19: 7,073,229 (GRCm39)	L439F	possibly damaging	Het
Gkn1	A	T	6: 87,325,163 (GRCm39)	I82N	probably damaging	Het
Gm14410	C	A	2: 176,885,613 (GRCm39)	C217F	probably damaging	Het
Gm14412	G	T	2: 177,007,590 (GRCm39)	H102N	probably benign	Het
Gm3159	A	T	14: 4,397,585 (GRCm38)		probably benign	Het
Golm2	T	C	2: 121,764,022 (GRCm39)	V434A	probably benign	Het
Helz2	A	G	2: 180,879,782 (GRCm39)	M612T	probably benign	Het
Iars1	T	A	13: 49,876,494 (GRCm39)	I853N	probably damaging	Het
Kcna4	A	C	2: 107,126,237 (GRCm39)	I324L	possibly damaging	Het
Kcnh1	T	C	1: 192,117,183 (GRCm39)	S690P	probably damaging	Het
Kpna3	T	C	14: 61,622,182 (GRCm39)	Y194C	probably damaging	Het
Lrrc56	T	C	7: 140,789,515 (GRCm39)	S511P	probably damaging	Het
Ltbp1	A	G	17: 75,559,351 (GRCm39)	Y280C	probably damaging	Het
Macf1	A	G	4: 123,420,906 (GRCm39)	I116T	probably benign	Het
Mmp16	A	T	4: 18,112,112 (GRCm39)	N496I	probably damaging	Het
Mon2	T	C	10: 122,878,236 (GRCm39)	D229G	probably benign	Het
Or2b2	T	A	13: 21,887,369 (GRCm39)	L66Q	probably damaging	Het
Or2j6	A	T	7: 139,980,377 (GRCm39)	M194K	probably damaging	Het
Or52s1	A	G	7: 102,861,186 (GRCm39)	I40V	probably benign	Het
Or5p61	T	A	7: 107,758,637 (GRCm39)	I148F	probably benign	Het
Or5w14	G	T	2: 87,541,428 (GRCm39)	T274K	possibly damaging	Het
Pkp1	A	G	1: 135,817,695 (GRCm39)	F147L	possibly damaging	Het
Ppp1r3e	T	C	14: 55,114,672 (GRCm39)	Q30R	probably damaging	Het
Ppp2r5b	C	A	19: 6,282,628 (GRCm39)	R174L	probably benign	Het
Pramel58	A	G	5: 94,831,287 (GRCm39)	D98G	possibly damaging	Het
Qrfprl	G	T	6: 65,433,121 (GRCm39)	A314S	possibly damaging	Het
Rbm15	C	T	3: 107,239,459 (GRCm39)	R313H	probably damaging	Het
Rgs18	A	G	1: 144,629,603 (GRCm39)	F219L	probably damaging	Het
Ryr1	T	C	7: 28,702,985 (GRCm39)		probably null	Het
Sirpd	T	A	3: 15,361,723 (GRCm39)		probably null	Het
Sirt4	T	G	5: 115,617,805 (GRCm39)	I284L	probably benign	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Syde1	A	G	10: 78,425,741 (GRCm39)	I142T	probably benign	Het
Synj2	A	G	17: 6,088,098 (GRCm39)	E1383G	probably benign	Het
Syt4	A	T	18: 31,573,245 (GRCm39)	C423*	probably null	Het
Tfr2	T	A	5: 137,569,986 (GRCm39)	Y131N	possibly damaging	Het
Tgm1	C	T	14: 55,949,932 (GRCm39)	R92Q	unknown	Het
Thoc1	A	T	18: 9,984,441 (GRCm39)	D309V	probably damaging	Het
Vmn2r24	C	T	6: 123,757,422 (GRCm39)	H97Y	probably benign	Het
Wbp1	A	T	6: 83,097,176 (GRCm39)	Y89*	probably null	Het
Wnk1	A	G	6: 119,926,137 (GRCm39)	L1358P	probably benign	Het
Zfp14	T	C	7: 29,738,368 (GRCm39)	T206A	possibly damaging	Het
Zfp748	T	C	13: 67,689,608 (GRCm39)	T551A	probably benign	Het
Zfp9	A	T	6: 118,441,843 (GRCm39)	V273E	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	137,772,566 (GRCm39)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	137,773,065 (GRCm39)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	137,776,067 (GRCm39)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	137,774,005 (GRCm39)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	137,774,704 (GRCm39)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	137,773,986 (GRCm39)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	137,775,838 (GRCm39)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	137,772,967 (GRCm39)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	137,772,632 (GRCm39)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	137,773,661 (GRCm39)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	137,773,313 (GRCm39)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	137,771,162 (GRCm39)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	137,775,181 (GRCm39)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	137,772,479 (GRCm39)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	137,773,031 (GRCm39)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	137,773,028 (GRCm39)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	137,770,934 (GRCm39)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	137,773,541 (GRCm39)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	137,771,443 (GRCm39)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	137,774,168 (GRCm39)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	137,772,400 (GRCm39)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	137,773,834 (GRCm39)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	137,776,027 (GRCm39)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	137,775,520 (GRCm39)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	137,774,246 (GRCm39)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	137,775,751 (GRCm39)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	137,771,503 (GRCm39)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	137,771,131 (GRCm39)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	137,771,437 (GRCm39)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	137,774,780 (GRCm39)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	137,775,433 (GRCm39)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	137,772,272 (GRCm39)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	137,771,611 (GRCm39)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	137,773,708 (GRCm39)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	137,772,260 (GRCm39)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	137,772,149 (GRCm39)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	137,771,170 (GRCm39)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	137,774,419 (GRCm39)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	137,776,109 (GRCm39)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	137,775,922 (GRCm39)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	137,774,701 (GRCm39)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	137,773,741 (GRCm39)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	137,772,383 (GRCm39)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	137,772,736 (GRCm39)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	137,774,561 (GRCm39)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	137,773,288 (GRCm39)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	137,772,386 (GRCm39)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	137,774,915 (GRCm39)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	137,771,971 (GRCm39)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	137,770,930 (GRCm39)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	137,773,811 (GRCm39)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	137,771,272 (GRCm39)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	137,775,820 (GRCm39)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	137,775,712 (GRCm39)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	137,771,237 (GRCm39)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	137,771,456 (GRCm39)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	137,772,629 (GRCm39)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	137,774,044 (GRCm39)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	137,771,887 (GRCm39)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	137,774,516 (GRCm39)	missense	probably damaging	1.00
R8181:1110002E22Rik	UTSW	3	137,774,156 (GRCm39)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	137,773,543 (GRCm39)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	137,772,211 (GRCm39)	missense	probably benign
R8434:1110002E22Rik	UTSW	3	137,773,021 (GRCm39)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	137,774,586 (GRCm39)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	137,771,798 (GRCm39)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	137,775,874 (GRCm39)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	137,772,520 (GRCm39)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	137,770,909 (GRCm39)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	137,775,677 (GRCm39)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	137,772,389 (GRCm39)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	137,772,464 (GRCm39)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	137,771,839 (GRCm39)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	137,771,183 (GRCm39)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	137,772,048 (GRCm39)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	137,772,766 (GRCm39)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	137,774,267 (GRCm39)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	137,771,126 (GRCm39)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	137,770,894 (GRCm39)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	137,774,857 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGAATTACCTGACTATCCCC -3'
(R):5'- GTCACATCCAGGAGCATCTTG -3'

Sequencing Primer
(F):5'- TATCCCCCTTAAAGGAAGTGCTG -3'
(R):5'- TCTGTGGGGACAGCAGCTG -3'

Posted On

2019-11-26