Mutagenetix > Incidental Mutation

Incidental Mutation 'R8887:Ift122'

677398

Institutional Source

Beutler Lab

Gene Symbol

Ift122

Ensembl Gene

ENSMUSG00000030323

Gene Name

intraflagellar transport 122

Synonyms

C86139, sopb, Wdr10

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8887 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

115853470-115926699 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115891919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 456 (T456S)

Ref Sequence

ENSEMBL: ENSMUSP00000108547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038234] [ENSMUST00000112923] [ENSMUST00000112925] [ENSMUST00000141305]

AlphaFold

Q6NWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000038234
AA Change: T456S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000045468
Gene: ENSMUSG00000030323
AA Change: T456S

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
WD40	162	208	2.29e1	SMART
WD40	210	249	1.91e1	SMART
WD40	251	290	3.45e-3	SMART
WD40	448	483	1.43e1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000108545
Gene: ENSMUSG00000030323
AA Change: T515S

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
Blast:WD40	163	267	3e-46	BLAST
WD40	269	308	1.91e1	SMART
WD40	310	349	3.45e-3	SMART
WD40	507	542	1.43e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112925
AA Change: T456S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108547
Gene: ENSMUSG00000030323
AA Change: T456S

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
WD40	122	160	1.43e0	SMART
WD40	162	208	2.29e1	SMART
WD40	210	249	1.91e1	SMART
WD40	251	290	3.45e-3	SMART
WD40	448	483	1.43e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141305

SMART Domains

Protein: ENSMUSP00000138535
Gene: ENSMUSG00000030323

Domain	Start	End	E-Value	Type
WD40	1	39	7.1e1	SMART
WD40	42	81	7.16e-10	SMART
WD40	83	120	1.54e0	SMART
low complexity region	124	134	N/A	INTRINSIC
low complexity region	162	176	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for a null mutation display embryonic lethality during organogenesis with exencephaly, a ventralized caudal neural tube, preaxial polydactyly, abnormal cilia, and left-right patterning defects. [provided by MGI curators]

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	A615S	possibly damaging	Het
Acsbg2	T	C	17: 56,868,285	T76A	probably benign	Het
Actn1	A	G	12: 80,168,423	C860R	probably damaging	Het
Adam23	T	A	1: 63,515,585	L170Q	probably damaging	Het
Afdn	C	T	17: 13,896,139	R1620*	probably null	Het
Agfg1	A	G	1: 82,870,804		probably benign	Het
Aire	A	G	10: 78,034,464	S476P	probably damaging	Het
Arhgef26	A	G	3: 62,339,980	T162A	probably benign	Het
Atp1a2	T	C	1: 172,285,655	Q487R	probably null	Het
BC048507	T	A	13: 67,863,509	C2S	probably benign	Het
Bnc2	A	C	4: 84,291,470		probably benign	Het
Bop1	C	T	15: 76,454,324	G473R	probably damaging	Het
C1galt1	A	G	6: 7,866,379	E75G	probably benign	Het
Cacna1i	T	C	15: 80,374,693	V1201A	possibly damaging	Het
Cecr2	C	A	6: 120,738,201	T249K	probably damaging	Het
Clca2	C	A	3: 145,085,049	G421*	probably null	Het
Clec1b	A	T	6: 129,401,740		probably null	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Col15a1	A	G	4: 47,287,091	Q843R	probably damaging	Het
Col6a3	T	C	1: 90,828,226	S114G	probably benign	Het
Corin	A	T	5: 72,329,610		probably null	Het
Cyp2u1	A	G	3: 131,302,854	Y92H	probably damaging	Het
Dcbld2	T	C	16: 58,408,907	L51P	probably damaging	Het
Dip2c	T	A	13: 9,623,953		probably benign	Het
Dlc1	A	T	8: 36,584,327	V299E	probably benign	Het
Dlgap2	G	A	8: 14,179,682		probably null	Het
Dnah1	A	G	14: 31,311,040	L346P	probably damaging	Het
Dnah9	T	C	11: 65,855,384	T3968A	probably benign	Het
Duox2	A	C	2: 122,289,563	M822R	probably null	Het
E2f7	A	T	10: 110,774,813	Q433L	probably benign	Het
Eif3k	A	C	7: 28,980,476	Y42*	probably null	Het
Elmod3	A	G	6: 72,586,511	S45P	probably damaging	Het
Emilin3	C	A	2: 160,909,188	V214F	possibly damaging	Het
Fbxo10	A	T	4: 45,058,887	F283L	probably benign	Het
Fbxw7	T	C	3: 84,969,242	Y358H		Het
G430095P16Rik	A	G	8: 84,726,414	N10S	unknown	Het
Gldc	A	G	19: 30,133,756	V540A	possibly damaging	Het
Gm13084	A	G	4: 143,812,687	F79L	probably damaging	Het
Gm3667	T	A	14: 6,874,222	E67D	probably benign	Het
Golga3	T	A	5: 110,205,760		probably benign	Het
H60c	T	C	10: 3,267,255	E38G	probably benign	Het
Hectd4	A	G	5: 121,295,478	D952G	probably benign	Het
Hoxb8	T	A	11: 96,284,397	L220Q	probably damaging	Het
Ice1	A	T	13: 70,602,931	L1679M	probably damaging	Het
Ifi202b	T	A	1: 173,974,914	Y118F	probably damaging	Het
Ighg3	G	A	12: 113,360,225	T181I		Het
Ighv1-66	C	A	12: 115,593,412	V17F	probably damaging	Het
Ighv5-12-4	A	G	12: 113,762,510	V31A	possibly damaging	Het
Ints12	T	A	3: 133,109,242	N403K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kalrn	A	C	16: 34,227,126	N908K	probably benign	Het
Kctd9	G	A	14: 67,724,567	V20I	unknown	Het
Krt78	G	T	15: 101,953,311	L167M	probably damaging	Het
Ldb1	T	C	19: 46,034,855	E206G	probably damaging	Het
Lig1	A	G	7: 13,296,787	Y455C	probably damaging	Het
Ltbp1	T	G	17: 75,179,082	I34S	probably damaging	Het
Map2	T	C	1: 66,415,599	I1216T	possibly damaging	Het
Mex3c	T	C	18: 73,573,729	V229A	probably damaging	Het
Mfsd11	T	C	11: 116,854,700		probably null	Het
Mroh1	A	G	15: 76,447,274	T1233A	probably benign	Het
Myct1	C	T	10: 5,604,208	T25I	probably damaging	Het
Nipbl	A	T	15: 8,361,787	H234Q	probably damaging	Het
Npc1l1	G	A	11: 6,225,665	P549S	probably damaging	Het
Olfr102	A	T	17: 37,313,751	L211Q	probably damaging	Het
Olfr1264	A	G	2: 90,021,925	V47A	probably benign	Het
Olfr153	A	G	2: 87,532,843	D270G	possibly damaging	Het
Olfr190	A	T	16: 59,074,483	V199D	possibly damaging	Het
Olfr803	A	T	10: 129,691,503	Y179*	probably null	Het
Padi3	A	T	4: 140,796,484	C228*	probably null	Het
Palld	T	A	8: 61,533,478	D1015V	unknown	Het
Pcna-ps2	A	T	19: 9,284,124	Y249F	probably benign	Het
Pelo	C	T	13: 115,088,915	C258Y	probably benign	Het
Ppp1r13b	A	T	12: 111,836,996		probably benign	Het
Prdm2	A	G	4: 143,134,201	W840R	probably damaging	Het
Prkcg	A	G	7: 3,322,341	D428G	possibly damaging	Het
Pus7	G	A	5: 23,743,478	R571*	probably null	Het
Rab11fip3	A	G	17: 26,067,953	C409R	possibly damaging	Het
Rdh13	T	C	7: 4,431,523	D186G	probably damaging	Het
Rslcan18	T	A	13: 67,098,729	H273L	probably damaging	Het
Rxfp1	T	A	3: 79,651,982		probably benign	Het
Sh3bp1	T	A	15: 78,904,340		probably null	Het
Siglecg	T	A	7: 43,408,584	S9T	probably benign	Het
Slc9a1	T	C	4: 133,411,947	F159L	probably benign	Het
Slc9a2	A	G	1: 40,718,849	I183V	probably benign	Het
St6galnac4	A	G	2: 32,594,098	M103V	probably damaging	Het
Tbc1d30	T	C	10: 121,351,154	D42G	possibly damaging	Het
Tlr5	C	A	1: 182,973,767	T212K	probably benign	Het
Trim43b	T	G	9: 89,087,589	I269L	probably benign	Het
Ttll6	T	C	11: 96,156,666	L697P	possibly damaging	Het
Ttn	T	G	2: 76,718,895	T31813P	probably damaging	Het
Ttn	A	T	2: 76,741,588	D26320E	probably damaging	Het
Uba6	A	G	5: 86,159,202		probably null	Het
Usp1	C	G	4: 98,930,948	Q216E	probably benign	Het
Vcan	T	C	13: 89,704,907	T645A	probably benign	Het
Wdr64	C	A	1: 175,772,284	P559H	probably benign	Het
Zfat	T	C	15: 68,184,466	Y247C	probably damaging	Het
Zfp979	A	T	4: 147,613,762	N163K	probably damaging	Het

Other mutations in Ift122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ift122	APN	6	115917057	missense	probably benign	0.10
IGL00783:Ift122	APN	6	115905902	missense	probably benign
IGL00784:Ift122	APN	6	115905902	missense	probably benign
IGL00799:Ift122	APN	6	115877536	missense	probably damaging	1.00
IGL00908:Ift122	APN	6	115913909	missense	probably benign	0.00
IGL01012:Ift122	APN	6	115899491	missense	probably damaging	0.99
IGL01444:Ift122	APN	6	115884379	missense	probably benign	0.08
IGL01451:Ift122	APN	6	115912604	critical splice donor site	probably null
IGL01940:Ift122	APN	6	115887371	splice site	probably benign
IGL02089:Ift122	APN	6	115925437	missense	probably benign	0.00
IGL02331:Ift122	APN	6	115887324	missense	probably damaging	1.00
IGL02929:Ift122	APN	6	115902877	missense	probably damaging	1.00
IGL03169:Ift122	APN	6	115905961	splice site	probably benign
PIT1430001:Ift122	UTSW	6	115925744	splice site	probably benign
R0158:Ift122	UTSW	6	115924484	splice site	probably benign
R0496:Ift122	UTSW	6	115905902	missense	probably benign
R1065:Ift122	UTSW	6	115875325	splice site	probably null
R1670:Ift122	UTSW	6	115923883	missense	probably benign	0.05
R1861:Ift122	UTSW	6	115891928	missense	probably damaging	1.00
R1889:Ift122	UTSW	6	115894421	critical splice donor site	probably null
R1990:Ift122	UTSW	6	115924367	missense	probably damaging	1.00
R2362:Ift122	UTSW	6	115884350	missense	probably damaging	0.99
R2385:Ift122	UTSW	6	115912522	missense	probably benign	0.21
R3734:Ift122	UTSW	6	115925501	splice site	probably benign
R3800:Ift122	UTSW	6	115925906	missense	probably benign	0.03
R3981:Ift122	UTSW	6	115913921	missense	probably benign	0.02
R4289:Ift122	UTSW	6	115923891	missense	probably damaging	1.00
R4545:Ift122	UTSW	6	115890588	missense	probably damaging	1.00
R4546:Ift122	UTSW	6	115890588	missense	probably damaging	1.00
R4641:Ift122	UTSW	6	115888765	nonsense	probably null
R4815:Ift122	UTSW	6	115881556	missense	possibly damaging	0.95
R4854:Ift122	UTSW	6	115862746	missense	possibly damaging	0.61
R4928:Ift122	UTSW	6	115915858	utr 3 prime	probably benign
R5021:Ift122	UTSW	6	115864372	missense	probably benign	0.41
R5121:Ift122	UTSW	6	115912534	missense	probably benign	0.04
R5200:Ift122	UTSW	6	115920379	missense	probably damaging	0.99
R5549:Ift122	UTSW	6	115892022	missense	probably damaging	1.00
R6111:Ift122	UTSW	6	115875286	missense	probably damaging	1.00
R6141:Ift122	UTSW	6	115916011	missense	probably damaging	0.99
R6766:Ift122	UTSW	6	115926243	missense	probably benign	0.15
R7379:Ift122	UTSW	6	115926302	missense	probably benign
R7402:Ift122	UTSW	6	115894322	missense	probably benign	0.00
R7436:Ift122	UTSW	6	115926302	missense	probably benign
R7437:Ift122	UTSW	6	115926302	missense	probably benign
R7438:Ift122	UTSW	6	115926302	missense	probably benign
R7517:Ift122	UTSW	6	115890582	missense	probably benign	0.37
R7978:Ift122	UTSW	6	115920352	missense	probably benign	0.37
R8492:Ift122	UTSW	6	115887005	missense	probably benign	0.02
R8493:Ift122	UTSW	6	115910331	missense	probably benign	0.01
R8669:Ift122	UTSW	6	115923291	missense	probably damaging	0.98
R8867:Ift122	UTSW	6	115880671	missense	probably damaging	1.00
R8947:Ift122	UTSW	6	115924407	missense	probably benign
R8978:Ift122	UTSW	6	115925808	missense	possibly damaging	0.78
R9149:Ift122	UTSW	6	115890531	missense	probably damaging	1.00
R9571:Ift122	UTSW	6	115880667	missense	possibly damaging	0.50
R9573:Ift122	UTSW	6	115880685	missense	probably benign
R9677:Ift122	UTSW	6	115920396	missense	probably benign	0.16
Z1176:Ift122	UTSW	6	115915994	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACTCTTAAGGATGGTTACCC -3'
(R):5'- TGGGAGACTCAAGACTGCTC -3'

Sequencing Primer
(F):5'- TCTGCACACAGCTTCTGGAG -3'
(R):5'- AAGACTGCTCCCTGTTCTGAGG -3'

Posted On

2021-08-02