Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Ice1'

677429

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

068752-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R8887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70551707-70637634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70602931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 1679 (L1679M)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000220637] [ENSMUST00000222568]

AlphaFold

E9Q286

Predicted Effect

probably damaging
Transcript: ENSMUST00000043493
AA Change: L1679M

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

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: L1679M

Domain	Start	End	E-Value	Type
coiled coil region	22	185	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	338	351	N/A	INTRINSIC
low complexity region	372	378	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	946	958	N/A	INTRINSIC
low complexity region	1061	1073	N/A	INTRINSIC
low complexity region	1329	1352	N/A	INTRINSIC
low complexity region	1595	1604	N/A	INTRINSIC
low complexity region	1656	1671	N/A	INTRINSIC
SCOP:d1gw5a_	2026	2223	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220637

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 37,033,354 (GRCm38)	A615S	possibly damaging	Het
Acsbg2	T	C	17: 56,868,285 (GRCm38)	T76A	probably benign	Het
Actn1	A	G	12: 80,168,423 (GRCm38)	C860R	probably damaging	Het
Adam23	T	A	1: 63,515,585 (GRCm38)	L170Q	probably damaging	Het
Afdn	C	T	17: 13,896,139 (GRCm38)	R1620*	probably null	Het
Agfg1	A	G	1: 82,870,804 (GRCm38)		probably benign	Het
Aire	A	G	10: 78,034,464 (GRCm38)	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,339,980 (GRCm38)	T162A	probably benign	Het
Atp1a2	T	C	1: 172,285,655 (GRCm38)	Q487R	probably null	Het
BC048507	T	A	13: 67,863,509 (GRCm38)	C2S	probably benign	Het
Bnc2	A	C	4: 84,291,470 (GRCm38)		probably benign	Het
Bop1	C	T	15: 76,454,324 (GRCm38)	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm38)	E75G	probably benign	Het
Cacna1i	T	C	15: 80,374,693 (GRCm38)	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,738,201 (GRCm38)	T249K	probably damaging	Het
Clca2	C	A	3: 145,085,049 (GRCm38)	G421*	probably null	Het
Clec1b	A	T	6: 129,401,740 (GRCm38)		probably null	Het
Cnksr3	C	T	10: 7,154,467 (GRCm38)	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091 (GRCm38)	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,828,226 (GRCm38)	S114G	probably benign	Het
Corin	A	T	5: 72,329,610 (GRCm38)		probably null	Het
Cyp2u1	A	G	3: 131,302,854 (GRCm38)	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,408,907 (GRCm38)	L51P	probably damaging	Het
Dip2c	T	A	13: 9,623,953 (GRCm38)		probably benign	Het
Dlc1	A	T	8: 36,584,327 (GRCm38)	V299E	probably benign	Het
Dlgap2	G	A	8: 14,179,682 (GRCm38)		probably null	Het
Dnah1	A	G	14: 31,311,040 (GRCm38)	L346P	probably damaging	Het
Dnah9	T	C	11: 65,855,384 (GRCm38)	T3968A	probably benign	Het
Duox2	A	C	2: 122,289,563 (GRCm38)	M822R	probably null	Het
E2f7	A	T	10: 110,774,813 (GRCm38)	Q433L	probably benign	Het
Eif3k	A	C	7: 28,980,476 (GRCm38)	Y42*	probably null	Het
Elmod3	A	G	6: 72,586,511 (GRCm38)	S45P	probably damaging	Het
Emilin3	C	A	2: 160,909,188 (GRCm38)	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887 (GRCm38)	F283L	probably benign	Het
Fbxw7	T	C	3: 84,969,242 (GRCm38)	Y358H		Het
G430095P16Rik	A	G	8: 84,726,414 (GRCm38)	N10S	unknown	Het
Gldc	A	G	19: 30,133,756 (GRCm38)	V540A	possibly damaging	Het
Gm13084	A	G	4: 143,812,687 (GRCm38)	F79L	probably damaging	Het
Gm3667	T	A	14: 6,874,222 (GRCm38)	E67D	probably benign	Het
Golga3	T	A	5: 110,205,760 (GRCm38)		probably benign	Het
H60c	T	C	10: 3,267,255 (GRCm38)	E38G	probably benign	Het
Hectd4	A	G	5: 121,295,478 (GRCm38)	D952G	probably benign	Het
Hoxb8	T	A	11: 96,284,397 (GRCm38)	L220Q	probably damaging	Het
Ifi202b	T	A	1: 173,974,914 (GRCm38)	Y118F	probably damaging	Het
Ift122	A	T	6: 115,891,919 (GRCm38)	T456S	probably benign	Het
Ighg3	G	A	12: 113,360,225 (GRCm38)	T181I		Het
Ighv1-66	C	A	12: 115,593,412 (GRCm38)	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,762,510 (GRCm38)	V31A	possibly damaging	Het
Ints12	T	A	3: 133,109,242 (GRCm38)	N403K	probably damaging	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kalrn	A	C	16: 34,227,126 (GRCm38)	N908K	probably benign	Het
Kctd9	G	A	14: 67,724,567 (GRCm38)	V20I	unknown	Het
Krt78	G	T	15: 101,953,311 (GRCm38)	L167M	probably damaging	Het
Ldb1	T	C	19: 46,034,855 (GRCm38)	E206G	probably damaging	Het
Lig1	A	G	7: 13,296,787 (GRCm38)	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,179,082 (GRCm38)	I34S	probably damaging	Het
Map2	T	C	1: 66,415,599 (GRCm38)	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,573,729 (GRCm38)	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,854,700 (GRCm38)		probably null	Het
Mroh1	A	G	15: 76,447,274 (GRCm38)	T1233A	probably benign	Het
Myct1	C	T	10: 5,604,208 (GRCm38)	T25I	probably damaging	Het
Nipbl	A	T	15: 8,361,787 (GRCm38)	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,225,665 (GRCm38)	P549S	probably damaging	Het
Olfr102	A	T	17: 37,313,751 (GRCm38)	L211Q	probably damaging	Het
Olfr1264	A	G	2: 90,021,925 (GRCm38)	V47A	probably benign	Het
Olfr153	A	G	2: 87,532,843 (GRCm38)	D270G	possibly damaging	Het
Olfr190	A	T	16: 59,074,483 (GRCm38)	V199D	possibly damaging	Het
Olfr803	A	T	10: 129,691,503 (GRCm38)	Y179*	probably null	Het
Padi3	A	T	4: 140,796,484 (GRCm38)	C228*	probably null	Het
Palld	T	A	8: 61,533,478 (GRCm38)	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,284,124 (GRCm38)	Y249F	probably benign	Het
Pelo	C	T	13: 115,088,915 (GRCm38)	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,836,996 (GRCm38)		probably benign	Het
Prdm2	A	G	4: 143,134,201 (GRCm38)	W840R	probably damaging	Het
Prkcg	A	G	7: 3,322,341 (GRCm38)	D428G	possibly damaging	Het
Pus7	G	A	5: 23,743,478 (GRCm38)	R571*	probably null	Het
Rab11fip3	A	G	17: 26,067,953 (GRCm38)	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,431,523 (GRCm38)	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,098,729 (GRCm38)	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,651,982 (GRCm38)		probably benign	Het
Sh3bp1	T	A	15: 78,904,340 (GRCm38)		probably null	Het
Siglecg	T	A	7: 43,408,584 (GRCm38)	S9T	probably benign	Het
Slc9a1	T	C	4: 133,411,947 (GRCm38)	F159L	probably benign	Het
Slc9a2	A	G	1: 40,718,849 (GRCm38)	I183V	probably benign	Het
St6galnac4	A	G	2: 32,594,098 (GRCm38)	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,351,154 (GRCm38)	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,973,767 (GRCm38)	T212K	probably benign	Het
Trim43b	T	G	9: 89,087,589 (GRCm38)	I269L	probably benign	Het
Ttll6	T	C	11: 96,156,666 (GRCm38)	L697P	possibly damaging	Het
Ttn	A	T	2: 76,741,588 (GRCm38)	D26320E	probably damaging	Het
Ttn	T	G	2: 76,718,895 (GRCm38)	T31813P	probably damaging	Het
Uba6	A	G	5: 86,159,202 (GRCm38)		probably null	Het
Usp1	C	G	4: 98,930,948 (GRCm38)	Q216E	probably benign	Het
Vcan	T	C	13: 89,704,907 (GRCm38)	T645A	probably benign	Het
Wdr64	C	A	1: 175,772,284 (GRCm38)	P559H	probably benign	Het
Zfat	T	C	15: 68,184,466 (GRCm38)	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,613,762 (GRCm38)	N163K	probably damaging	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70,602,289 (GRCm38)	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70,604,082 (GRCm38)	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70,604,904 (GRCm38)	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70,623,946 (GRCm38)	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70,592,599 (GRCm38)	missense	probably damaging	1.00
IGL02583:Ice1	APN	13	70,605,735 (GRCm38)	missense	possibly damaging	0.80
IGL02794:Ice1	APN	13	70,609,159 (GRCm38)	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70,624,474 (GRCm38)	splice site	probably benign
IGL02929:Ice1	APN	13	70,596,203 (GRCm38)	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70,602,929 (GRCm38)	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70,603,249 (GRCm38)	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70,623,921 (GRCm38)	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70,603,348 (GRCm38)	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70,619,044 (GRCm38)	nonsense	probably null
R0281:Ice1	UTSW	13	70,604,047 (GRCm38)	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70,601,191 (GRCm38)	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70,606,594 (GRCm38)	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70,596,221 (GRCm38)	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70,605,410 (GRCm38)	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70,605,904 (GRCm38)	missense	probably damaging	1.00
R1596:Ice1	UTSW	13	70,604,895 (GRCm38)	missense	possibly damaging	0.94
R1603:Ice1	UTSW	13	70,603,353 (GRCm38)	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70,605,448 (GRCm38)	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70,606,325 (GRCm38)	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70,604,442 (GRCm38)	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70,604,553 (GRCm38)	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70,615,338 (GRCm38)	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70,606,218 (GRCm38)	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70,602,307 (GRCm38)	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70,605,083 (GRCm38)	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70,602,427 (GRCm38)	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70,605,622 (GRCm38)	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70,614,957 (GRCm38)	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70,602,780 (GRCm38)	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70,596,173 (GRCm38)	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70,602,578 (GRCm38)	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70,603,240 (GRCm38)	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70,605,370 (GRCm38)	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70,606,084 (GRCm38)	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70,603,527 (GRCm38)	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70,603,110 (GRCm38)	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70,609,027 (GRCm38)	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70,606,384 (GRCm38)	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70,604,850 (GRCm38)	missense	probably benign
R5431:Ice1	UTSW	13	70,592,650 (GRCm38)	missense	probably damaging	1.00
R5722:Ice1	UTSW	13	70,615,100 (GRCm38)	missense	possibly damaging	0.95
R5881:Ice1	UTSW	13	70,606,501 (GRCm38)	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70,606,377 (GRCm38)	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70,606,731 (GRCm38)	missense	probably benign
R6253:Ice1	UTSW	13	70,603,164 (GRCm38)	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70,594,839 (GRCm38)	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70,606,309 (GRCm38)	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70,603,473 (GRCm38)	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70,615,263 (GRCm38)	splice site	probably null
R6853:Ice1	UTSW	13	70,603,302 (GRCm38)	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70,594,894 (GRCm38)	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70,596,164 (GRCm38)	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70,624,406 (GRCm38)	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70,606,102 (GRCm38)	nonsense	probably null
R7445:Ice1	UTSW	13	70,596,167 (GRCm38)	missense
R7646:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70,605,483 (GRCm38)	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70,589,797 (GRCm38)	missense	possibly damaging	0.93
R7812:Ice1	UTSW	13	70,603,005 (GRCm38)	missense	possibly damaging	0.63
R8061:Ice1	UTSW	13	70,603,732 (GRCm38)	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70,606,201 (GRCm38)	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70,604,430 (GRCm38)	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70,606,407 (GRCm38)	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70,604,376 (GRCm38)	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70,604,447 (GRCm38)	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70,602,891 (GRCm38)	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70,592,668 (GRCm38)	missense
R8954:Ice1	UTSW	13	70,610,578 (GRCm38)	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70,592,639 (GRCm38)	missense
R9438:Ice1	UTSW	13	70,606,315 (GRCm38)	missense	probably benign	0.04
R9452:Ice1	UTSW	13	70,596,343 (GRCm38)	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70,592,602 (GRCm38)	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70,605,201 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGCATGTTCCCTTTGAGG -3'
(R):5'- TCCAAGGTCATCACAGACACTG -3'

Sequencing Primer
(F):5'- CCCTTTGAGGAGGCTGAGG -3'
(R):5'- GGTCATCACAGACACTGTCTCC -3'

Posted On

2021-08-02